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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000388415.1:p.Ile252Leu
CA5593621
ENST00000428800.5:c.754A>T
CA377516963
ENST00000428800.5:c.754A>C