Canonical Allele Identifier: PA2826738182
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 964153
ClinVar RCV Id: RCV001238321 RCV002436937
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Ile1005Lys
CA393846619
NM_001287246.2:c.3014T>A