Canonical Allele Identifier: PA916053516
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_476505.3:p.Val905Met
CA2189037
NM_057164.5:c.2713G>A