Allele Registry

Canonical Allele Identifier: PA916043948

Gene: PPT1 HGNC NCBI

ClinVar RCV:

RCV000049591

ClinVar Variation:

56180

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350624.1:p.Cys46dup	CA263475 NM_001363695.2:c.135_137dup