Allele Registry

Canonical Allele Identifier: PA658805518

Gene: PSAP HGNC NCBI

ClinVar RCV:

RCV000624741

RCV001731817

ClinVar Variation:

521912

HGVS (amino-acid)	Matching Registered Transcripts
NP_002769.1:p.Ile86Asn	CA377154031 NM_002778.4:c.257T>A