ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915992538
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142256
ClinVar RCV Id:
RCV000131269
RCV001849940
RCV001077524
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Val729Ala
CA003670
NM_007298.3:c.2186T>C