ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658827439
Gene: KCNJ11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
552596
ClinVar RCV Id:
RCV000667888
RCV002226726
RCV002493096
RCV002530727
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000516.3:p.Val285Ile
CA5902232
NM_000525.4:c.853G>A