Allele Registry

Canonical Allele Identifier: PA645413945

Gene: PSAP HGNC NCBI

ClinVar RCV:

RCV000272506

RCV000274090

RCV000327586

RCV000386828

RCV002522167

RCV004021479

ClinVar Variation:

300533

HGVS (amino-acid)	Matching Registered Transcripts
NP_002769.1:p.Pro56Arg	CA5547881 NM_002778.4:c.167C>G