Allele Registry

Canonical Allele Identifier: PA2830148556

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 197435

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Asp2414His	CA245566 NM_057166.5:c.7240G>C