Allele Registry

Canonical Allele Identifier: PA2825595774

Gene: SLC12A3 HGNC NCBI

ClinVar RCV:

RCV000614700

RCV000989607

RCV001512559

RCV002218571

ClinVar Variation:

504886

1568736

HGVS (amino-acid)	Matching Registered Transcripts
NP_001119579.2:p.Ala263Gly	CA8069208 NM_001126107.2:c.788C>G CA2499223589 NM_001126107.2:c.788_789delinsGT CA2573152449 NM_001126107.2:c.788_789delinsGA