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
XP_024308452.1:p.[Thr2472_Thr2480delinsAsnAspGluAlaGlyAspHisHisAsn;Pro2482_Thr2487delinsAlaCysAsnHisHisAsn;Pro2489_Ala2501delinsAlaCysAspTyrTyrLysSerAlaIleCysGluAlaSer]
CA2187482
XM_024452684.1:c.7414dup