ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825596249
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2574798
ClinVar RCV Id:
RCV003319695
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119579.2:p.Pro559Asp
CA2573332962
NM_001126107.2:c.1675_1676delinsGA