Allele Registry

Canonical Allele Identifier: PA645413987

Gene: PSAP HGNC NCBI

ClinVar Allele:

316052

ClinVar RCV:

RCV000309664

RCV000366675

RCV000402799

RCV000407182

RCV002520626

ClinVar Variation:

300508

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035930.1:p.His489Tyr	CA5547329 NM_001042465.3:c.1465C>T