Canonical Allele Identifier: PA2830149381
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335124
ClinVar RCV Id: RCV000349597 RCV003144224 RCV002523124
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ala1082Thr
CA2189057
NM_057167.4:c.3244G>A