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
ENSP00000360903.1:p.His318Gln	CA377516093 ENST00000371837.5:c.954T>G CA377516094 ENST00000371837.5:c.954T>A