ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825596286
Gene: SLC12A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119579.2:p.Met580Thr
CA8069593
NM_001126107.2:c.1739T>C