This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.[Thr2286_Pro2300delinsGlnHisAsnLysAlaCysAspTyrTyrLysSerAlaIleCysGlu;Ala2302_Pro2305delinsSerArgCysLys;Ala2306_Pro2307insGly;Ala2308_Pro2315delinsCysGluThrCysGlyCysGlnAla]
CA2754786750
NM_057166.5:c.6855_6856insCAAC