ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829692263
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54775
ClinVar RCV Id:
RCV000576963
RCV003157362
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Val1000Ala
CA002047
NM_007297.4:c.2999T>C