Allele Registry

Canonical Allele Identifier: PA316942

Gene: PPT1 HGNC NCBI

ClinVar RCV:

RCV000188720

RCV000661982

RCV000766627

RCV002345676

ClinVar Variation:

206647

HGVS (amino-acid)	Matching Registered Transcripts
NP_000301.1:p.Arg179Cys	CA316940 NM_000310.4:c.535C>T