Canonical Allele Identifier: PA913192885
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ser1399Arg
CA2188977
NM_004369.4:c.4197C>A
CA351196565
NM_004369.4:c.4197C>G
CA351196581
NM_004369.4:c.4195A>C