Canonical Allele Identifier: PA094203
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 282207

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Val1985Met
CA2188513
NM_004369.4:c.5953G>A