Allele Registry

Canonical Allele Identifier: PA916016205

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000697084

RCV002424667

ClinVar Variation:

575003

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Pro868Arg	CA7738826 NM_001287247.2:c.2603C>G