Allele Registry

Canonical Allele Identifier: PA645478502

Gene: SLC12A5 HGNC NCBI

ClinVar RCV:

RCV000444362

RCV001313521

RCV004022271

ClinVar Variation:

377102

HGVS (amino-acid)	Matching Registered Transcripts
NP_001128243.1:p.Pro118Leu	CA9887030 NM_001134771.2:c.353C>T