Canonical Allele Identifier: PA2830145207
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 162554

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Ala362Thr
CA295323
NM_057164.5:c.1084G>A