Allele Registry

Canonical Allele Identifier: PA111204

Gene: PPT1 HGNC NCBI

ClinVar Allele:

70854

ClinVar RCV:

RCV000049626

ClinVar Variation:

56215

HGVS (amino-acid)	Matching Registered Transcripts
NP_000301.1:p.Gly250Val	CA263548 NM_000310.4:c.749G>T