Allele Registry

Canonical Allele Identifier: PA2829382520

Gene: PSAP HGNC NCBI

ClinVar RCV:

RCV000309664

RCV000366675

RCV000402799

RCV000407182

RCV002520626

ClinVar Variation:

300508

HGVS (amino-acid)	Matching Registered Transcripts
NP_002769.1:p.His486Tyr	CA5547329 NM_002778.4:c.1456C>T