ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915992439
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252886
ClinVar RCV Id:
RCV000238611
RCV000615770
RCV002518535
RCV004020983
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Ser693Leu
CA10586114
NM_007298.3:c.2078C>T