Allele Registry

Canonical Allele Identifier: PA915979753

Gene: PPT1 HGNC NCBI

ClinVar RCV:

RCV000049606

ClinVar Variation:

56195

HGVS (amino-acid)	Matching Registered Transcripts
NP_001136076.1:p.Cys49Tyr	CA263508 NM_001142604.2:c.146G>A