Allele Registry

Canonical Allele Identifier: PA645464313

Gene: PPT1 HGNC NCBI

ClinVar RCV:

RCV000420750

RCV001341505

ClinVar Variation:

379909

HGVS (amino-acid)	Matching Registered Transcripts
NP_000301.1:p.Tyr247Cys	CA789571 NM_000310.4:c.740A>G