ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: KCNQ1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000334497.5:p.Arg467Ter
ENST00000335475.6:c.[1393del;1395G>T;1398...
ENST00000335475.6:c.1399C>T