Allele Registry

Canonical Allele Identifier: PA243140

Gene: PPT1 HGNC NCBI

ClinVar Allele:

193410

ClinVar RCV:

RCV000625813

RCV000724058

RCV001252359

RCV002516724

RCV003235097

ClinVar Variation:

196249

HGVS (amino-acid)	Matching Registered Transcripts
NP_000301.1:p.Asn110Ser	CA243138 NM_000310.4:c.329A>G