Canonical Allele Identifier: PA118390
Gene: COLQ HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_005668.2:p.Glu214Ter
NM_005677.4:c.[636del;639T>G;641A>T]

NM_005677.4:c.[636del;639T>G;641A>T;643A=...

NM_005677.4:c.[636del;639T>G;641A>T;643A>...

NM_005677.4:c.640G>T