Canonical Allele Identifier: PA2830150607
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476560

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Arg2528Gln
CA2187602
NM_057167.4:c.7583G>A