Canonical Allele Identifier: PA2499239263
Gene: SLC12A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1052598
ClinVar RCV Id: RCV001360816
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001128243.1:p.Asp1054His
CA409208220
NM_001134771.2:c.3160G>C