ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828710708
Gene: KCNJ11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8686
ClinVar RCV Id:
RCV000009223
RCV000763231
RCV002226646
RCV003466841
RCV003555984
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364226.1:p.Glu195Lys
CA254526
NM_001377297.1:c.583G>A