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Canonical Allele Identifier: Get Identifier
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.[Thr2879_Thr2887delinsAsnAspGluAlaGlyAspHisHisAsn;Pro2889_Thr2894delinsAlaCysAsnHisHisAsn;Pro2896_Ala2908delinsAlaCysAspTyrTyrLysSerAlaIleCysGluAlaSer]
CA2187482
NM_004369.4:c.8635dup