ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915996459
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
419692
ClinVar RCV Id:
RCV000485151
RCV000566059
RCV000637344
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser475Cys
CA10599200
NM_007300.4:c.1423A>T