Allele Registry

Canonical Allele Identifier: PA2826381572

Gene: SLC5A1 HGNC NCBI

ClinVar RCV:

RCV000114940

RCV000726922

ClinVar Variation:

127077

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243243.1:p.Arg431His	CA151364 NM_001256314.2:c.1292G>A