Allele Registry

Canonical Allele Identifier: PA645455072

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

288812

ClinVar RCV:

RCV000369073

RCV002523125

ClinVar Variation:

335131

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Glu1079Lys	CA2189207 NM_004369.4:c.3235G>A