Allele Registry

Canonical Allele Identifier: PA645478717

Gene: PDSS1 HGNC NCBI

ClinVar RCV:

RCV000416401

ClinVar Variation:

375348

HGVS (amino-acid)	Matching Registered Transcripts
NP_055132.2:p.Ser370Arg	CA16044188 NM_014317.5:c.1108A>C CA376352054 NM_014317.5:c.1110T>G CA376352056 NM_014317.5:c.1110T>A