ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829688124
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
441393
ClinVar RCV Id:
RCV000510041
RCV002298636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Leu295Pro
CA10600008
NM_007297.4:c.884T>C