Canonical Allele Identifier: PA2830149393
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 282774
ClinVar RCV Id: RCV000653522 RCV000725141 RCV001139021 RCV001824721
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Arg1095Gln
CA2189048
NM_057167.4:c.3284G>A