Allele Registry

Canonical Allele Identifier: PA916043987

Gene: PPT1 HGNC NCBI

ClinVar RCV:

RCV000049621

RCV001192781

RCV001646987

ClinVar Variation:

56210

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350624.1:p.Leu222Pro	CA263538 NM_001363695.2:c.665T>C