Allele Registry

Canonical Allele Identifier: PA658810695

Gene: COL6A1 HGNC NCBI

ClinVar Variation Id: 497568

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Glu929Lys	CA10071032 NM_001848.3:c.2785G>A