ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829690169
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54386
ClinVar RCV Id:
RCV000111725
RCV003157339
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Pro586Thr
CA001236
NM_007297.4:c.1756C>A