ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829692754
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187054
ClinVar RCV Id:
RCV000166741
RCV000469615
RCV000759521
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser1096Cys
CA002217
NM_007297.4:c.3287C>G