Allele Registry

Canonical Allele Identifier: PA645400878

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000276804

RCV000704001

ClinVar Variation:

283762

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Ala255Thr	CA10069743 NM_001848.3:c.763G>A