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
ENSP00000494939.1:p.Arg62Ter
ENST00000526095.2:c.[178del;180G>T;183C>A...
ENST00000526095.2:c.184C>T