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.Tyr280Ter
CA211366150
ENST00000428800.5:c.840T>G
CA377516757
ENST00000428800.5:c.840T>A