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
ENSP00000413019.2:p.Gln182His
CA377516636
ENST00000456827.5:c.546G>T
CA377516637
ENST00000456827.5:c.546G>C