Allele Registry

Canonical Allele Identifier: PA233843

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

177343

ClinVar RCV:

RCV000153097

RCV001087811

ClinVar Variation:

166945

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Arg1096His	CA233841 NM_004369.4:c.3287G>A