Allele Registry

Canonical Allele Identifier: PA2825805514

Gene: PPT1 HGNC NCBI

ClinVar Allele:

196169

ClinVar RCV:

RCV000435004

RCV000515384

RCV001252358

RCV001706153

RCV002317064

RCV003955098

ClinVar Variation:

199009

HGVS (amino-acid)	Matching Registered Transcripts
NP_001136076.1:p.Ile199Val	CA247958 NM_001142604.2:c.595A>G