ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000564
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55084
ClinVar RCV Id:
RCV000112232
RCV001021741
RCV001359626
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Thr1349Pro
CA002583
NM_007300.4:c.4045A>C