Allele Registry

Canonical Allele Identifier: PA2825403749

Gene: PSAP HGNC NCBI

ClinVar Allele:

28403

ClinVar RCV:

RCV000014292

ClinVar Variation:

13364

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035931.1:p.Cys384Phe	CA123059 NM_001042466.3:c.1151G>T