ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA167952
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
69409
ClinVar RCV:
RCV000048034
RCV000111977
RCV000131313
RCV003159094
RCV003226180
RCV003607223
ClinVar Variation:
54742
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Glu1000Lys
CA001951
NM_007294.4:c.2998G>A