ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829679799
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1791394
ClinVar RCV Id:
RCV002450476
RCV003101830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.His816Asp
CA10597118
NM_007294.4:c.2446C>G