Canonical Allele Identifier: PA2830150123
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 194849

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Gly1892Val
CA275050
NM_057167.4:c.5675G>T