Allele Registry

Canonical Allele Identifier: PA658678256

Gene: BLM HGNC NCBI

ClinVar Allele:

477276

ClinVar RCV:

RCV000568146

RCV001227793

RCV003392414

ClinVar Variation:

485342

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Lys1356Arg	CA274729005 NM_000057.4:c.4067A>G