Allele Registry

Canonical Allele Identifier: PA096766

Gene: SETX HGNC NCBI

ClinVar RCV:

RCV000002381

RCV000789616

ClinVar Variation:

2291

HGVS (amino-acid)	Matching Registered Transcripts
NP_055861.3:p.Arg2136His	CA252187 NM_015046.7:c.6407G>A