Allele Registry

Canonical Allele Identifier: PA263542

Gene: PPT1 HGNC NCBI

ClinVar RCV:

RCV000049622

RCV001778693

RCV003328554

ClinVar Variation:

56211

HGVS (amino-acid)	Matching Registered Transcripts
NP_000301.1:p.Phe225Ser	CA263540 NM_000310.4:c.674T>C