Allele Registry

Canonical Allele Identifier: PA916043984

Gene: PPT1 HGNC NCBI

ClinVar RCV:

RCV000559599

ClinVar Variation:

465416

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350624.1:p.Lys216Glu	CA789593 NM_001363695.2:c.646A>G