Canonical Allele Identifier: PA2830148527
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 95013

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Met2381Val
CA148083
NM_057166.5:c.7141A>G