Allele Registry

Canonical Allele Identifier: PA645400732

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000493688

RCV000695796

RCV001137825

RCV002527089

ClinVar Variation:

429802

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Arg211Cys	CA10069639 NM_001848.3:c.631C>T