Allele Registry

Canonical Allele Identifier: PA2827618143

Gene: SETX HGNC NCBI

ClinVar RCV:

RCV000323303

RCV000380301

RCV002524587

ClinVar Variation:

365352

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338457.1:p.Pro1642Thr	CA5297106 NM_001351528.2:c.4924C>A