Allele Registry

Canonical Allele Identifier: PA201517

Gene: LIPA HGNC NCBI

ClinVar RCV:

RCV000175562

RCV000350905

RCV000606750

RCV000675918

RCV002336425

ClinVar Variation:

195049

HGVS (amino-acid)	Matching Registered Transcripts
NP_000226.2:p.Thr16Pro	CA201516 NM_000235.4:c.46A>C