Allele Registry

Canonical Allele Identifier: PA2825142192

Gene: SLC12A1 HGNC NCBI

ClinVar RCV:

RCV001327246

RCV003333151

ClinVar Variation:

1026755

HGVS (amino-acid)	Matching Registered Transcripts
NP_000329.2:p.Pro254Ser	CA7546897 NM_000338.3:c.760C>T