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Canonical Allele Identifier: Get Identifier
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016858793.1:p.[Thr2077_Thr2085delinsAsnAspGluAlaGlyAspHisHisAsn;Pro2087_Thr2092delinsAlaCysAsnHisHisAsn;Pro2094_Ala2106delinsAlaCysAspTyrTyrLysSerAlaIleCysGluAlaSer]
CA2187482
XM_017003304.1:c.6229dup