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: COLQ
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_536800.2:p.Glu180Ter
NM_080539.4:c.[534del;537T>G;539A>T]
NM_080539.4:c.[534del;537T>G;539A>T;541A=...
NM_080539.4:c.[534del;537T>G;539A>T;541A>...
NM_080539.4:c.538G>T