Canonical Allele Identifier: PA2830149351
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285636
ClinVar RCV Id: RCV000365975 RCV001064513
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Arg1046Cys
CA2189082
NM_057167.4:c.3136C>T