Canonical Allele Identifier: PA2580157118
Gene: SLC12A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1967035
ClinVar RCV Id: RCV002721744
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001128243.1:p.Glu987Lys
CA409207492
NM_001134771.2:c.2959G>A