Canonical Allele Identifier: PA2830148455
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 501551
ClinVar RCV Id: RCV000592234
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ile2293Val
CA351191824
NM_057166.5:c.6877A>G