Allele Registry

Canonical Allele Identifier: PA2828165088

Gene: SLC12A6 HGNC NCBI

ClinVar RCV:

RCV000724345

RCV001275275

ClinVar Variation:

193493

HGVS (amino-acid)	Matching Registered Transcripts
NP_001352017.1:p.Pro77Arg	CA239021 NM_001365088.1:c.230C>G