ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000563
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
462628
ClinVar RCV Id:
RCV000531377
RCV001021742
RCV003999075
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Thr1349Ala
CA10593870
NM_007300.4:c.4045A>G