Canonical Allele Identifier: PA2830150413
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476556

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Val2262Ile
CA2187808
NM_057167.4:c.6784G>A