Allele Registry

Canonical Allele Identifier: PA2825595975

Gene: SLC12A3 HGNC NCBI

ClinVar RCV:

RCV000439274

RCV000762973

ClinVar Variation:

381528

HGVS (amino-acid)	Matching Registered Transcripts
NP_001119579.2:p.Arg398Leu	CA8069399 NM_001126107.2:c.1193G>T