ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA254516
Gene: KCNJ11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000516.3:p.Leu147Pro
NM_000525.4:c.440T>C