Allele Registry

Canonical Allele Identifier: PA658659338

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

446334

ClinVar RCV:

RCV000729140

RCV001226905

ClinVar Variation:

452893

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Arg885Cys	CA10070992 NM_001848.3:c.2653C>T