Allele Registry

Canonical Allele Identifier: PA2826740078

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000115313

RCV000561783

RCV000628664

RCV002357412

ClinVar Variation:

127505

1735910

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Gly1167Arg	CA287118 NM_001287247.2:c.3499G>A CA393850436 NM_001287247.2:c.3499G>C