Allele Registry

Canonical Allele Identifier: PA645401137

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

266780

ClinVar RCV:

RCV000264328

RCV000691051

RCV000725110

RCV002518857

ClinVar Variation:

282543

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Lys610Thr	CA10070637 NM_001848.3:c.1829A>C