Allele Registry

Canonical Allele Identifier: PA2825403707

Gene: PSAP HGNC NCBI

ClinVar Allele:

28411

ClinVar RCV:

RCV000014301

RCV003317034

ClinVar Variation:

13372

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035931.1:p.Leu351Pro	CA123069 NM_001042466.3:c.1052T>C