Canonical Allele Identifier: PA2830146575
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 199093
ClinVar RCV Id: RCV000180600 RCV000803816
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Arg1102Gln
CA248099
NM_057165.5:c.3305G>A