ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829709953
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54246
ClinVar RCV Id:
RCV000258496
RCV000590698
RCV000775194
RCV001729371
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Cys47Tyr
CA000951
NM_007299.4:c.140G>A