Allele Registry

Canonical Allele Identifier: PA2826741292

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000469889

RCV000570597

RCV003105908

RCV003306749

ClinVar Variation:

405297

2566806

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Lys498Asn	CA7738831 NM_001287248.2:c.1494G>C CA393845729 NM_001287248.2:c.1494G>T