Allele Registry

Canonical Allele Identifier: PA2826741450

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000541196

RCV001016575

RCV001030457

RCV001194357

RCV003153670

RCV003478099

ClinVar Variation:

454121

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Ile572Val	CA7738884 NM_001287248.2:c.1714A>G