Allele Registry

Canonical Allele Identifier: PA263495

Gene: PPT1 HGNC NCBI

ClinVar Allele:

70827

ClinVar RCV:

RCV000049599

RCV003230386

ClinVar Variation:

56188

HGVS (amino-acid)	Matching Registered Transcripts
NP_000301.1:p.Cys96Tyr	CA263493 NM_000310.4:c.287G>A