Allele Registry

Canonical Allele Identifier: PA1139690247

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV001061142

ClinVar Variation:

855803

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Pro868Gln	CA393845693 NM_001287247.2:c.2603C>A