Canonical Allele Identifier: PA2830148812
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285629

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Arg259Gln
CA2189629
NM_057167.4:c.776G>A