Allele Registry

Canonical Allele Identifier: PA1139695207

Gene: SLC12A1 HGNC NCBI

ClinVar RCV:

RCV001121892

RCV002558206

ClinVar Variation:

888525

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171761.1:p.Pro254Ala	CA7546896 NM_001184832.2:c.760C>G