Allele Registry

Canonical Allele Identifier: PA916015628

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000460513

RCV000574815

RCV000656775

RCV001800401

ClinVar Variation:

127479

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Asp64Val	CA243084 NM_001287247.2:c.191A>T