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
ENSP00000337354.5:p.Ile252Leu	CA5593621 ENST00000336233.9:c.754A>T CA377516963 ENST00000336233.9:c.754A>C