Allele Registry

Canonical Allele Identifier: PA916054582

Gene: COL6A2 HGNC NCBI

ClinVar Variation Id: 285726

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Glu695Lys	CA10072438 NM_058175.3:c.2083G>A