ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3077840023
Gene: KCNJ11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000516.3:p.Ile249Val
CA5902255
NM_000525.4:c.745A>G