Canonical Allele Identifier: PA2830148436
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1989571
ClinVar RCV Id: RCV002786576

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Thr2285_Thr2291dup
CA1043806476
NM_057166.5:c.6849_6869dup