ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139685113
Gene: KCNJ2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000882.1:p.Ile171Val
CA8738737
NM_000891.3:c.511A>G