Allele Registry

Canonical Allele Identifier: PA2825143200

Gene: SLC12A3 HGNC NCBI

ClinVar RCV:

RCV000366193

RCV001401125

ClinVar Variation:

319899

HGVS (amino-acid)	Matching Registered Transcripts
NP_000330.3:p.Glu417Lys	CA8069407 NM_000339.3:c.1249G>A