Allele Registry

Canonical Allele Identifier: PA2830147317

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 286160

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Asp767Val	CA2188989 NM_057166.5:c.2300A>T