Allele Registry

Canonical Allele Identifier: PA645455102

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

273810

ClinVar RCV:

RCV000370349

RCV001068738

ClinVar Variation:

289573

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Arg1252His	CA2189081 NM_004369.4:c.3755G>A