Canonical Allele Identifier: PA645413552
Gene: LIPA HGNC NCBI

Linked Data

ClinVar Variation Id: 291265
ClinVar RCV Id: RCV000375480
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000226.2:p.Arg4Gln
CA5593841
NM_000235.4:c.11G>A