Allele Registry

Canonical Allele Identifier: PA1139677144

Gene: SLC12A3 HGNC NCBI

ClinVar RCV:

RCV001288429

RCV001807395

ClinVar Variation:

994770

HGVS (amino-acid)	Matching Registered Transcripts
NP_001119580.2:p.Gly729Val	CA8069788 NM_001126108.2:c.2186G>T