Allele Registry

Canonical Allele Identifier: PA891845674

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000697084

RCV002424667

ClinVar Variation:

575003

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Pro868Arg	CA7738826 NM_000057.4:c.2603C>G