Canonical Allele Identifier: PA2830150781
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1005457

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Val2746Ile
CA2187430
NM_057167.4:c.8236G>A