Allele Registry

Canonical Allele Identifier: PA2827095981

Gene: PDSS1 HGNC NCBI

ClinVar RCV:

RCV000416401

ClinVar Variation:

375348

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308908.1:p.Ser200Arg	CA16044188 NM_001321979.2:c.598A>C CA376352054 NM_001321979.2:c.600T>G CA376352056 NM_001321979.2:c.600T>A