Allele Registry

Canonical Allele Identifier: PA2828165556

Gene: SLC12A6 HGNC NCBI

ClinVar Allele:

322257

ClinVar RCV:

RCV000395538

RCV000879703

RCV003957635

ClinVar Variation:

315618

HGVS (amino-acid)	Matching Registered Transcripts
NP_001352017.1:p.Arg338Cys	CA7464420 NM_001365088.1:c.1012C>T