Canonical Allele Identifier: PA2830145435
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Ser650Arg
CA2189227
NM_057164.5:c.1950C>A
CA351205365
NM_057164.5:c.1950C>G
CA351205382
NM_057164.5:c.1948A>C