ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499256929
Gene: SLC12A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371065.1:p.Ala657Val
CA392313809
NM_001384136.1:c.1970C>T