ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825598298
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1077594
ClinVar RCV Id:
RCV001392216
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119580.2:p.Thr947Met
CA8070071
NM_001126108.2:c.2840C>T