Allele Registry

Canonical Allele Identifier: PA645455030

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 282683

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Arg659Cys	CA2189504 NM_004369.4:c.1975C>T