ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829699123
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
867819
ClinVar RCV Id:
RCV001076593
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Asp40Ala
CA10601922
NM_007298.3:c.119A>C