ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA268053
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54832
ClinVar RCV Id:
RCV000048137
RCV000112055
RCV000570505
RCV000758810
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Cys1103Phe
CA002134
NM_007294.4:c.3308G>T