Allele Registry

Canonical Allele Identifier: PA916015595

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000543803

RCV001022081

RCV002476078

ClinVar Variation:

454151

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274175.1:p.Arg1407Lys	CA7739215 NM_001287246.2:c.4220G>A