Canonical Allele Identifier: PA2830150388
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476555
ClinVar RCV Id: RCV000559787
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Arg2238Pro
CA351203731
NM_057167.4:c.6713G>C