ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829693323
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54982
ClinVar RCV Id:
RCV000048305
RCV000130029
RCV000112166
RCV000212175
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Thr1195Ala
CA002391
NM_007297.4:c.3583A>G