Canonical Allele Identifier: PA2830149735
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 17149
ClinVar RCV Id: RCV000018689 RCV003764588 RCV000790696
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Gly1473Glu
CA239569
NM_057167.4:c.4418G>A