Canonical Allele Identifier: PA2830151918
Gene: COL6A2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Gly286Arg
CA410525056
NM_058174.3:c.856G>A
CA410525058
NM_058174.3:c.856G>C