Allele Registry

Canonical Allele Identifier: PA658817483

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

492607

ClinVar RCV:

RCV000595749

RCV000687632

RCV004553335

ClinVar Variation:

501183

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Arg677Cys	CA2189493 NM_004369.4:c.2029C>T