Canonical Allele Identifier: PA916053507
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_476505.3:p.Arg894Gln
CA2189048
NM_057164.5:c.2681G>A