Allele Registry

Canonical Allele Identifier: PA645374480

Gene: SLC5A1 HGNC NCBI

ClinVar RCV:

RCV000318214

RCV000455377

ClinVar Variation:

341263

HGVS (amino-acid)	Matching Registered Transcripts
NP_000334.1:p.His615Gln	CA10198350 NM_000343.4:c.1845C>G CA411315544 NM_000343.4:c.1845C>A