Canonical Allele Identifier: PA2825097164
Gene: LIPA HGNC NCBI

Linked Data

ClinVar Variation Id: 2566142
ClinVar RCV Id: RCV003306398

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000226.2:p.Asp278Asn
CA377516776
NM_000235.4:c.832G>A