Allele Registry

Canonical Allele Identifier: PA2827617195

Gene: SETX HGNC NCBI

ClinVar RCV:

RCV000516539

RCV000531955

RCV001509372

RCV002395238

RCV004541622

ClinVar Variation:

448347

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338456.1:p.Ser2497Asn	CA5296378 NM_001351527.2:c.7490G>A