Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: BLM HGNC NCBI

HGVS (amino-acid)	Transcript change
ENSP00000347232.3:p.Gly1134Ter	ENST00000355112.8:c.[3399del;3401G>T;3403... ENST00000355112.8:c.[3399del;3401G>T;3403... ENST00000355112.8:c.3400G>T