Allele Registry

Canonical Allele Identifier: PA241438

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

192311

ClinVar RCV:

RCV000175702

RCV000653530

RCV000724794

RCV000754716

RCV000764263

RCV001139936

ClinVar Variation:

195150

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Arg68Cys	CA241436 NM_001848.3:c.202C>T