Canonical Allele Identifier: PA2826738132
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 822340
ClinVar RCV Id: RCV001017622 RCV003388842
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Arg982Lys
CA393846467
NM_001287246.2:c.2945G>A