ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828710754
Gene: KCNJ11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
435560
ClinVar RCV Id:
RCV000502356
RCV000763718
RCV001573273
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364226.1:p.Arg238Ser
CA5902210
NM_001377297.1:c.712C>A