ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA169961
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.2903936725
Score
0.1983641165
Score
0.2454603009
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000132500
RCV001076053
ClinVar Variation:
142988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.His1805Tyr
CA003578
NM_007294.4:c.5413C>T