Allele Registry

Canonical Allele Identifier: PA2829382333

Gene: PSAP HGNC NCBI

ClinVar RCV:

RCV001280270

RCV002537887

RCV003355353

RCV003481049

ClinVar Variation:

991966

HGVS (amino-acid)	Matching Registered Transcripts
NP_002769.1:p.Glu379Asp	CA5547474 NM_002778.4:c.1137G>C CA377144140 NM_002778.4:c.1137G>T