Canonical Allele Identifier: PA2830149899
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ser1664Arg
CA222623
NM_057167.4:c.4992C>A
CA351186146
NM_057167.4:c.4992C>G
CA351186151
NM_057167.4:c.4990A>C