Allele Registry

Canonical Allele Identifier: PA111263

Gene: PPT1 HGNC NCBI

ClinVar Allele:

70859

ClinVar RCV:

RCV000049631

ClinVar Variation:

56220

HGVS (amino-acid)	Matching Registered Transcripts
NP_000301.1:p.Leu305Pro	CA263559 NM_000310.4:c.914T>C