ClinGen Allele Registry
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Canonical Allele Identifier:
PA915995041
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000531019
RCV001077804
RCV001770425
RCV002438341
ClinVar Variation:
462596
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Asp96His
CA10601582
NM_007300.4:c.286G>C