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Canonical Allele Identifier: Get Identifier
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.[Thr2673_Thr2681delinsAsnAspGluAlaGlyAspHisHisAsn;Pro2683_Thr2688delinsAlaCysAsnHisHisAsn;Pro2690_Ala2702delinsAlaCysAspTyrTyrLysSerAlaIleCysGluAlaSer]
CA2187482
NM_057167.4:c.8017dup