Allele Registry

Canonical Allele Identifier: PA645455390

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 290190

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Leu1824Phe	CA2188665 NM_004369.4:c.5470C>T