Allele Registry

Canonical Allele Identifier: PA916016225

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000560159

RCV002257782

RCV003478098

ClinVar Variation:

454112

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Tyr888His	CA7738836 NM_001287247.2:c.2662T>C