ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826147592
Gene: SLC12A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171761.1:p.Ala498Val
CA392311814
NM_001184832.2:c.1493C>T