Canonical Allele Identifier: PA2830149493
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ser1193Arg
CA2188977
NM_057167.4:c.3579C>A
CA351196565
NM_057167.4:c.3579C>G
CA351196581
NM_057167.4:c.3577A>C