Allele Registry

Canonical Allele Identifier: PA2830147199

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

273810

ClinVar RCV:

RCV000370349

RCV001068738

ClinVar Variation:

289573

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Arg645His	CA2189081 NM_057166.5:c.1934G>A