Allele Registry

Canonical Allele Identifier: PA658803404

Gene: LIPA HGNC NCBI

ClinVar Allele:

490257

ClinVar RCV:

RCV000596849

RCV000665538

RCV001450065

RCV003488716

RCV004543344

ClinVar Variation:

498833

HGVS (amino-acid)	Matching Registered Transcripts
NP_000226.2:p.Phe228Ser	CA5593637 NM_000235.4:c.683T>C