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Canonical Allele Identifier: Get Identifier
Gene: COL6A2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.[Ile681_Ala698delinsTyrArgLeuProValGluLeuGlnGlyGlyCysGlnGluProArgValAspCys;Gly700_Trp702delinsArgHisLeuAsp;Pro704Leu;Ala706_Ala710delinsProGlnValCys]
CA10588991
NM_001849.4:c.2040dup