ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA279805
Gene: SLC12A5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128243.1:p.Leu426Pro
CA279804
NM_001134771.2:c.1277T>C