Allele Registry

Canonical Allele Identifier: PA2580259265

Gene: COL6A1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Ser693Arg	CA10070768 NM_001848.3:c.2077A>C CA410535305 NM_001848.3:c.2079C>A CA410535306 NM_001848.3:c.2079C>G