ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA267792
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54267
ClinVar RCV Id:
RCV000111628
RCV001364594
RCV002390197
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Arg496Ser
CA000995
NM_007294.4:c.1486C>A