ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825595637
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_001119579.2:p.Ser177Trp
CA395980884
NM_001126107.2:c.530C>G