Allele Registry

Canonical Allele Identifier: PA645413935

Gene: PSAP HGNC NCBI

ClinVar RCV:

RCV000304205

RCV000345088

RCV000393668

RCV000972285

RCV001552293

ClinVar Variation:

300536

HGVS (amino-acid)	Matching Registered Transcripts
NP_002769.1:p.Ala30Ser	CA5547906 NM_002778.4:c.88G>T