Canonical Allele Identifier: PA2830147043
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 289937
ClinVar RCV Id: RCV000653597 RCV000765645 RCV000726400 RCV001136882
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Arg468Trp
CA2189211
NM_057166.5:c.1402C>T