Canonical Allele Identifier: PA2830146668
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 593201

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Ser1193Arg
CA2188977
NM_057165.5:c.3579C>A
CA351196565
NM_057165.5:c.3579C>G
CA351196581
NM_057165.5:c.3577A>C