Allele Registry

Canonical Allele Identifier: PA2826052047

Gene: SLC26A5 HGNC NCBI

ClinVar RCV:

RCV000083266

ClinVar Variation:

97020

HGVS (amino-acid)	Matching Registered Transcripts
NP_001161434.1:p.Arg130Ser	CA149718 NM_001167962.2:c.390A>C CA368767410 NM_001167962.2:c.390A>T