ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828710684
Gene: KCNJ11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8677
ClinVar RCV Id:
RCV000009213
RCV000992253
RCV002247279
RCV002226642
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364226.1:p.His172Arg
CA254522
NM_001377297.1:c.515A>G