Allele Registry

Canonical Allele Identifier: PA243086

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000460513

RCV000574815

RCV000656775

RCV001800401

ClinVar Variation:

127479

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Asp64Val	CA243084 NM_000057.4:c.191A>T