Canonical Allele Identifier: PA2830148467
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 597333
ClinVar RCV Id: RCV000733409 RCV001340091
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ala2308Thr
CA2187452
NM_057166.5:c.6922G>A