Canonical Allele Identifier: PA916053804
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335130

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Arg890Cys
CA2189198
NM_057167.4:c.2668C>T