Allele Registry

Canonical Allele Identifier: PA2830147327

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

134268

ClinVar RCV:

RCV000180594

RCV000224823

RCV000304466

RCV001081946

RCV001358668

RCV004549581

ClinVar Variation:

128819

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Glu779Lys	CA203744 NM_057166.5:c.2335G>A