Allele Registry

Canonical Allele Identifier: PA148712

Gene: SETX HGNC NCBI

ClinVar Allele:

101557

ClinVar RCV:

RCV000081693

RCV000335767

RCV000398565

RCV000576443

RCV001705760

ClinVar Variation:

95660

HGVS (amino-acid)	Matching Registered Transcripts
NP_055861.3:p.Phe1152Cys	CA148710 NM_015046.7:c.3455T>G