Allele Registry

Canonical Allele Identifier: PA645413574

Gene: LIPA HGNC NCBI

ClinVar Allele:

323828

ClinVar RCV:

RCV000270478

RCV000596255

RCV000904697

ClinVar Variation:

301573

HGVS (amino-acid)	Matching Registered Transcripts
NP_000226.2:p.Thr337Ala	CA5593532 NM_000235.4:c.1009A>G