Canonical Allele Identifier: PA2830151976
Gene: COL6A2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Gly328Arg
CA321963358
NM_058174.3:c.982G>A
CA410527251
NM_058174.3:c.982G>C