ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499239259
Gene: SLC12A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1008133
ClinVar RCV Id:
RCV001305422
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128243.1:p.Glu959Lys
CA409207323
NM_001134771.2:c.2875G>A