Allele Registry

Canonical Allele Identifier: PA915995943

Gene: SLC12A1 HGNC NCBI

ClinVar RCV:

RCV000009295

RCV001328098

ClinVar Variation:

8752

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171761.1:p.Asp648Asn	CA119888 NM_001184832.2:c.1942G>A