Allele Registry

Canonical Allele Identifier: PA2830145867

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

269866

ClinVar RCV:

RCV000298554

RCV001228546

ClinVar Variation:

285629

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Arg259Gln	CA2189629 NM_057165.5:c.776G>A