ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658666764
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
462595
ClinVar RCV Id:
RCV000542549
RCV000777275
RCV003478149
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ser950Phe
CA10596289
NM_007294.4:c.2849C>T