ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828710454
Gene: KCNJ11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
21200
ClinVar RCV Id:
RCV000020357
RCV002227046
RCV003556057
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364225.1:p.Val165Ala
CA341726
NM_001377296.1:c.494T>C