Canonical Allele Identifier: PA247628
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 198793
ClinVar RCV Id: RCV000180244 RCV000653624 RCV001697128 RCV001143453 RCV002516813 RCV004553022
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg1149Gln
CA247626
NM_004369.4:c.3446G>A