Allele Registry

Canonical Allele Identifier: PA916016656

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000628645

RCV001021691

RCV001030462

ClinVar Variation:

524781

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Ala966Val	CA7739175 NM_001287248.2:c.2897C>T