Allele Registry

Canonical Allele Identifier: PA2573183289

Gene: PPT1 HGNC NCBI

ClinVar RCV:

RCV001972054

ClinVar Variation:

1431385

HGVS (amino-acid)	Matching Registered Transcripts
NP_001136076.1:p.Arg48Gly	CA789686 NM_001142604.2:c.142C>G