Allele Registry

Canonical Allele Identifier: PA915979790

Gene: PPT1 HGNC NCBI

ClinVar RCV:

RCV000049613

RCV000436288

RCV001385552

RCV001526944

RCV001547349

RCV002222156

ClinVar Variation:

56202

1072746

HGVS (amino-acid)	Matching Registered Transcripts
NP_001136076.1:p.Val78Leu	CA263521 NM_001142604.2:c.232G>T CA339847926 NM_001142604.2:c.232G>C