ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915993475
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418071
ClinVar RCV Id:
RCV000487131
RCV001851131
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Glu472Gln
CA10592055
NM_007299.4:c.1414G>C