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Canonical Allele Identifier: Get Identifier
Gene: COLQ HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000373296.3:p.[Gly197_Gln207delinsGluAspGlnGluAsnGluAlaSerArgAspArg;Asp210_Pro220delinsIleValGluLeuTrpAlaHisGlnAlaSerLeu;Pro222_Pro226delinsLeuLeuValAsnLeu]
CA2577521853
ENST00000383786.9:c.590del