Allele Registry

Canonical Allele Identifier: PA2827618130

Gene: SETX HGNC NCBI

ClinVar Allele:

441286

ClinVar RCV:

RCV000518382

RCV000764811

RCV001579382

RCV002341213

RCV003233685

RCV003233686

ClinVar Variation:

448330

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338457.1:p.Pro1622Leu	CA5297121 NM_001351528.2:c.4865C>T