Allele Registry

Canonical Allele Identifier: PA2830147819

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

511408

ClinVar RCV:

RCV000623881

RCV001860425

ClinVar Variation:

520883

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Gly1473Arg	CA351216634 NM_057166.5:c.4417G>C