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Canonical Allele Identifier: Get Identifier
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000315873.4:p.[Thr2687_Pro2701delinsGlnHisAsnLysAlaCysAspTyrTyrLysSerAlaIleCysGlu;Ala2703_Pro2706delinsSerArgCysLys;Ala2707_Pro2708insGly;Ala2709_Pro2716delinsCysGluThrCysGlyCysGlnAla]
CA2754786750
ENST00000353578.9:c.8058_8059insCAAC