Allele Registry

Canonical Allele Identifier: PA1139712392

Gene: COL6A1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Gly553Arg	CA410530611 NM_001848.3:c.1657G>A CA410530612 NM_001848.3:c.1657G>C