ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829698124
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
867377
ClinVar RCV Id:
RCV001076052
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.His1758Asp
CA10590635
NM_007297.4:c.5272C>G