Canonical Allele Identifier: PA2830147988
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284586
ClinVar RCV Id: RCV000286359 RCV000538135
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Gly1693Arg
CA2188030
NM_057166.5:c.5077G>A
CA351208372
NM_057166.5:c.5077G>C