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Canonical Allele Identifier: Get Identifier
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000386844.1:p.[Thr2673_Thr2681delinsAsnAspGluAlaGlyAspHisHisAsn;Pro2683_Thr2688delinsAlaCysAsnHisHisAsn;Pro2690_Ala2702delinsAlaCysAspTyrTyrLysSerAlaIleCysGluAlaSer]
CA2187482
ENST00000409809.5:c.8017dup