Canonical Allele Identifier: PA2826741502
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1428408
ClinVar RCV Id: RCV001948269

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Glu596Lys
CA393846396
NM_001287248.2:c.1786G>A