Canonical Allele Identifier: PA2830150079
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284554

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Glu1861Lys
CA2188419
NM_057167.4:c.5581G>A