Canonical Allele Identifier: PA2826738129
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 822309
ClinVar RCV Id: RCV001017573 RCV002550831
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Ala980Thr
CA274764690
NM_001287246.2:c.2938G>A