Allele Registry

Canonical Allele Identifier: PA2580501704

Gene: COL6A2 HGNC NCBI

ClinVar Variation Id: 2126510

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Ser686Arg	CA410541353 NM_058175.3:c.2056A>C CA410541365 NM_058175.3:c.2058C>A CA410541367 NM_058175.3:c.2058C>G