Allele Registry

Canonical Allele Identifier: PA2830147173

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 425260

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Leu616Pro	CA2189121 NM_057166.5:c.1847T>C