Allele Registry

Canonical Allele Identifier: PA2826381596

Gene: SLC5A1 HGNC NCBI

ClinVar RCV:

RCV000318214

RCV000455377

ClinVar Variation:

341263

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243243.1:p.His488Gln	CA10198350 NM_001256314.2:c.1464C>G CA411315544 NM_001256314.2:c.1464C>A