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)
Matching Registered Transcripts
ENSP00000334497.5:p.[Val127Met;Val290Met]
CA085191
ENST00000335475.6:c.[379G>A;868G>A]