Canonical Allele Identifier: PA2499239220
Gene: SLC12A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1010694
ClinVar RCV Id: RCV001308367
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001128243.1:p.Lys59Asn
CA315631271
NM_001134771.2:c.177G>C
CA409186969
NM_001134771.2:c.177G>T