Canonical Allele Identifier: PA2830150565
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 95000
ClinVar RCV Id: RCV000081005 RCV001324707 RCV002514422
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ala2464Thr
CA222664
NM_057167.4:c.7390G>A