Canonical Allele Identifier: PA2825782541
Gene: SLC12A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2278202
ClinVar RCV Id: RCV004124993
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001128243.1:p.Ser1007Arg
CA409207657
NM_001134771.2:c.3019A>C
CA409207666
NM_001134771.2:c.3021C>A
CA409207668
NM_001134771.2:c.3021C>G