ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828710520
Gene: KCNJ11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2574445
ClinVar RCV Id:
RCV003319027
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364225.1:p.Pro230Ser
CA379769686
NM_001377296.1:c.688C>T