ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825596511
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
373500
ClinVar RCV Id:
RCV000412838
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119579.2:p.Gly728Asp
CA8069789
NM_001126107.2:c.2183G>A