Canonical Allele Identifier: PA2580500778
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ser851Arg
CA2189227
NM_057167.4:c.2553C>A
CA351205365
NM_057167.4:c.2553C>G
CA351205382
NM_057167.4:c.2551A>C