Allele Registry

Canonical Allele Identifier: PA1139741735

Gene: PPT1 HGNC NCBI

ClinVar RCV:

RCV000049596

RCV001844028

ClinVar Variation:

56185

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350624.1:p.Phe85del	CA263484 NM_001363695.2:c.255_257del