Canonical Allele Identifier: PA2830145777
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Gly150Arg
CA2189716
NM_057165.5:c.448G>A
CA351222142
NM_057165.5:c.448G>C