Allele Registry

Canonical Allele Identifier: PA645455107

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000364187

RCV001855209

ClinVar Variation:

288410

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Lys1281Glu	CA10606077 NM_004369.4:c.3841A>G