Canonical Allele Identifier: PA2830148964
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 198165

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Val444Ile
CA246674
NM_057167.4:c.1330G>A