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: LIPA HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000282673.4:p.His18Gln	CA377518563 ENST00000282673.5:c.54T>G CA377518564 ENST00000282673.5:c.54T>A