Allele Registry

Canonical Allele Identifier: PA916053617

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

413593

ClinVar RCV:

RCV000488365

RCV000821801

ClinVar Variation:

425259

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Glu807Gln	CA2188967 NM_057166.5:c.2419G>C