Allele Registry

Canonical Allele Identifier: PA2826736295

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000564374

RCV000791833

ClinVar Variation:

485330

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274175.1:p.Asp146Val	CA274728070 NM_001287246.2:c.437A>T