Canonical Allele Identifier: PA2830146124
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 191156

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Arg562Gly
CA236133
NM_057165.5:c.1684C>G