Canonical Allele Identifier: PA2830149404
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 290193
ClinVar RCV Id: RCV000341791 RCV002519336
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Val1106Met
CA2189037
NM_057167.4:c.3316G>A