Allele Registry

Canonical Allele Identifier: PA2825598355

Gene: SLC12A3 HGNC NCBI

ClinVar RCV:

RCV000517299

RCV001271446

ClinVar Variation:

448395

HGVS (amino-acid)	Matching Registered Transcripts
NP_001119580.2:p.Cys985Tyr	CA8070172 NM_001126108.2:c.2954G>A