Canonical Allele Identifier: PA2830146130
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Phe568Leu
CA2189428
NM_057165.5:c.1702T>C
CA351213207
NM_057165.5:c.1704T>G
CA351213208
NM_057165.5:c.1704T>A