Allele Registry

Canonical Allele Identifier: PA658720886

Gene: PPT1 HGNC NCBI

ClinVar RCV:

RCV000585383

RCV001277583

ClinVar Variation:

493034

HGVS (amino-acid)	Matching Registered Transcripts
NP_000301.1:p.Lys216Arg	CA339846898 NM_000310.4:c.647A>G