Allele Registry

Canonical Allele Identifier: PA2830147028

Gene: COL6A3 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Ser450Arg	CA2189227 NM_057166.5:c.1350C>A CA351205365 NM_057166.5:c.1350C>G CA351205382 NM_057166.5:c.1348A>C