Canonical Allele Identifier: PA2830150453
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2652041
ClinVar RCV Id: RCV003431186
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ala2323Val
CA2187773
NM_057167.4:c.6968C>T