Canonical Allele Identifier: PA1139687934
Gene: SLC12A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 946541
ClinVar RCV Id: RCV001217426
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001128243.1:p.His998Gln
CA9887752
NM_001134771.2:c.2994C>A
CA409207584
NM_001134771.2:c.2994C>G