Canonical Allele Identifier: PA2830150429
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2440479
ClinVar RCV Id: RCV003143313
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ala2284Val
CA351202793
NM_057167.4:c.6851C>T