Canonical Allele Identifier: PA2830150069
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 422102

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Gly1850Glu
CA16617501
NM_057167.4:c.5549G>A