Canonical Allele Identifier: PA2830150711
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476563

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Thr2668Met
CA2187491
NM_057167.4:c.8003C>T