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Canonical Allele Identifier: Get Identifier
Gene: COL6A2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.[Leu684_Trp702delinsValGluLeuGlnGlyGlyCysGlnGluProArgValAspCysGlyArgHisLeuAsp;Pro704Leu;Ala706_Arg713delinsProGlnValCysLeuArgProPro]
CA2577630030
NM_058174.3:c.2050_2051del