ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580463758
Gene: SLC12A8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078904.4:p.Arg650Gln
CA2584419
NM_024628.6:c.1949G>A