ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580146840
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1993610
ClinVar RCV Id:
RCV002801529
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119580.2:p.Ser178Trp
CA395980884
NM_001126108.2:c.533C>G