ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829699577
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1019499
ClinVar RCV Id:
RCV001318937
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Ile125del
CA2260790439
NM_007298.3:c.373_375del