Canonical Allele Identifier: PA2830150796
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 286480

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ala2758Val
CA2187420
NM_057167.4:c.8273C>T