Allele Registry

Canonical Allele Identifier: PA645400862

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

267479

ClinVar RCV:

RCV000344836

RCV000384249

RCV001054436

ClinVar Variation:

283242

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Glu251Lys	CA10069713 NM_001848.3:c.751G>A