Allele Registry

Canonical Allele Identifier: PA2826147512

Gene: SLC12A1 HGNC NCBI

ClinVar RCV:

RCV002703022

ClinVar Variation:

2230832

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171761.1:p.Phe256Leu	CA7546900 NM_001184832.2:c.766T>C CA392306905 NM_001184832.2:c.768C>A CA392306908 NM_001184832.2:c.768C>G