Allele Registry

Canonical Allele Identifier: PA2825143471

Gene: SLC12A3 HGNC NCBI

ClinVar RCV:

RCV001215299

RCV001833878

ClinVar Variation:

944812

HGVS (amino-acid)	Matching Registered Transcripts
NP_000330.3:p.Arg642Cys	CA8069651 NM_000339.3:c.1924C>T