Allele Registry

Canonical Allele Identifier: PA263528

Gene: PPT1 HGNC NCBI

ClinVar RCV:

RCV000049615

RCV000731854

RCV002345360

RCV003155060

ClinVar Variation:

56204

HGVS (amino-acid)	Matching Registered Transcripts
NP_000301.1:p.Glu184Lys	CA263526 NM_000310.4:c.550G>A