Allele Registry

Canonical Allele Identifier: PA2829382338

Gene: PSAP HGNC NCBI

ClinVar RCV:

RCV000014292

ClinVar Variation:

13364

HGVS (amino-acid)	Matching Registered Transcripts
NP_002769.1:p.Cys382Phe	CA123059 NM_002778.4:c.1145G>T