Allele Registry

Canonical Allele Identifier: PA915995938

Gene: SLC12A1 HGNC NCBI

ClinVar RCV:

RCV000420163

RCV003558375

ClinVar Variation:

378048

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171761.1:p.Ala628Asp	CA16609224 NM_001184832.2:c.1883C>A