Allele Registry

Canonical Allele Identifier: PA2825409968

Gene: SLC12A6 HGNC NCBI

ClinVar RCV:

RCV001957250

RCV002560471

ClinVar Variation:

1424771

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035962.1:p.Trp195Cys	CA391612685 NM_001042497.2:c.585G>T CA391612688 NM_001042497.2:c.585G>C