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Canonical Allele Identifier: Get Identifier
Gene: COL6A2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000380870.1:p.[Phe671_Glu672delinsHisPro;Ile674_Ser683delinsGlyArgArgThrTyrArgLeuProValGlu;Ser685_Trp702delinsGlnGlyGlyCysGlnGluProArgValAspCysGlyArgHisLeuAsp]
CA638497894
ENST00000397763.6:c.2011_2018del