ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829679478
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1373190
ClinVar RCV Id:
RCV001900303
RCV002425152
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Asp746Ala
CA10597526
NM_007294.4:c.2237A>C