Allele Registry

Canonical Allele Identifier: PA2825595972

Gene: SLC12A3 HGNC NCBI

ClinVar RCV:

RCV000517680

RCV000762972

ClinVar Variation:

448391

HGVS (amino-acid)	Matching Registered Transcripts
NP_001119579.2:p.Arg398Cys	CA8069396 NM_001126107.2:c.1192C>T