Allele Registry

Canonical Allele Identifier: PA645401191

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

270193

ClinVar RCV:

RCV000318484

RCV001368237

ClinVar Variation:

285956

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Arg722His	CA10070785 NM_001848.3:c.2165G>A