Allele Registry

Canonical Allele Identifier: PA916043972

Gene: PPT1 HGNC NCBI

ClinVar RCV:

RCV000625813

RCV000724058

RCV001252359

RCV002516724

RCV003235097

ClinVar Variation:

196249

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350624.1:p.Asn110Ser	CA243138 NM_001363695.2:c.329A>G