Allele Registry

Canonical Allele Identifier: PA645487951

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000469889

RCV000570597

RCV003105908

RCV003306749

ClinVar Variation:

405297

2566806

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Lys873Asn	CA7738831 NM_000057.4:c.2619G>C CA393845729 NM_000057.4:c.2619G>T