Allele Registry

Canonical Allele Identifier: PA347040

Gene: LIPA HGNC NCBI

ClinVar RCV:

RCV000191997

RCV001269917

RCV001376576

RCV003987346

ClinVar Variation:

88770

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121077.1:p.Gly87Val	CA347038 NM_001127605.3:c.260G>T