biomedical and healthCAre Data Discovery Index Ecosystem
biomedical and healthCAre Data Discovery Index Ecosystem
| Title: | NM_000118.3(ENG):c.158G>A (p.Cys53Tyr) AND not provided |
| type: |
Variation
|
| ID: |
9606
|
| species: |
human
|
| accesstypes: |
download
|
| authorization: |
none
|
| authentication: |
none
|
| dateModified: |
10-05-2016
|
| ID: |
335058
|
| dateSubmitted: |
08-28-2014
|
| ID: |
SCV000188757
|
| ID: |
155789
|
| name: |
National Center for Biotechnology Information
|
| abbreviation: |
NCBI
|
| homePage: | https://www.ncbi.nlm.nih.gov/ |
| name: |
ClinVar
|
| abbreviation: |
ClinVar
|
| homePage: | https://www.ncbi.nlm.nih.gov/clinvar/ |
NM_000118.3(ENG):c.1844C>T (p.Ser615Leu) AND Haemorrhagic telangiectasia 1...
NM_000118.3(ENG):c.1274C>T (p.Ala425Val) AND Haemorrhagic telangiectasia 1...
NM_000118.3(ENG):c.640G>A (p.Gly214Ser) AND Haemorrhagic telangiectasia 1...
NM_004985.4(KRAS):c.531_533dupGAA (p.Lys180_Ser181insLys) AND Primary famil...
NM_004949.4(DSC2):c.1018A>G (p.Thr340Ala) AND Arrhythmogenic right ventricu...
NM_000118.3(ENG):c.572G>A (p.Gly191Asp) AND not specified...