ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915993336
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55242
ClinVar RCV Id:
RCV000048609
RCV000112366
RCV000129407
RCV001703953
RCV001778692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Ser438Cys
CA002933
NM_007299.4:c.1313C>G