ClinGen Allele Registry
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Canonical Allele Identifier:
PA915994418
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216674
ClinVar RCV Id:
RCV000197445
RCV001072597
RCV001190128
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Asp653His
CA337215
NM_007299.4:c.1957G>C