ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580118016
Gene: KCNJ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2184003
ClinVar RCV Id:
RCV002599900
RCV003994502
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000882.1:p.Ile248Thr
CA400861895
NM_000891.3:c.743T>C