Allele Registry

Canonical Allele Identifier: PA1139683468

Gene: PSAP HGNC NCBI

ClinVar RCV:

RCV001280270

RCV002537887

RCV003355353

RCV003481049

ClinVar Variation:

991966

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035930.1:p.Glu382Asp	CA5547474 NM_001042465.3:c.1146G>C CA377144140 NM_001042465.3:c.1146G>T