Allele Registry

Canonical Allele Identifier: PA2828165273

Gene: SLC12A6 HGNC NCBI

ClinVar RCV:

RCV001957250

RCV002560471

ClinVar Variation:

1424771

HGVS (amino-acid)	Matching Registered Transcripts
NP_001352017.1:p.Trp210Cys	CA391612685 NM_001365088.1:c.630G>T CA391612688 NM_001365088.1:c.630G>C