Allele Registry

Canonical Allele Identifier: PA247058

Gene: PPT1 HGNC NCBI

ClinVar RCV:

RCV000179745

RCV000670818

ClinVar Variation:

198413

HGVS (amino-acid)	Matching Registered Transcripts
NP_000301.1:p.Ser241Leu	CA247056 NM_000310.4:c.722C>T