ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915989863
Gene: KCNJ11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001159762.1:p.Glu92Ala
NM_001166290.2:c.275A>C