ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828710475
Gene: KCNJ11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2179313
ClinVar RCV Id:
RCV002591887
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364225.1:p.Ala184Thr
CA379770546
NM_001377296.1:c.550G>A