Allele Registry

Canonical Allele Identifier: PA3057566000

Gene: SLC12A1 HGNC NCBI

ClinVar RCV:

RCV005005797

ClinVar Variation:

3577260

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171761.1:p.Ser249Phe	CA269460294 NM_001184832.2:c.746C>T