Allele Registry

Canonical Allele Identifier: PA2827095943

Gene: PDSS1 HGNC NCBI

ClinVar RCV:

RCV000003393

ClinVar Variation:

3237

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308908.1:p.Asp138Glu	CA116105 NM_001321979.2:c.414T>G CA376350706 NM_001321979.2:c.414T>A