Allele Registry

Canonical Allele Identifier: PA916016450

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000034904

RCV000569697

ClinVar Variation:

42078

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Cys680Ser	CA298493 NM_001287248.2:c.2039G>C CA393846976 NM_001287248.2:c.2038T>A