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.Ser47Arg	CA5593764 ENST00000371837.5:c.141C>A CA377517985 ENST00000371837.5:c.141C>G CA377517991 ENST00000371837.5:c.139A>C