ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA268243
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55255
ClinVar RCV Id:
RCV000048622
RCV000112376
RCV001176277
RCV001280674
RCV003237432
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Asp1557His
CA002955
NM_007294.4:c.4669G>C