Canonical Allele Identifier: PA2830149648
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476527
ClinVar RCV Id: RCV000541981 RCV003480692
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Arg1358His
CA2188831
NM_057167.4:c.4073G>A