Allele Registry

Canonical Allele Identifier: PA239825

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

191202

ClinVar RCV:

RCV000174301

RCV000821054

ClinVar Variation:

194039

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Lys319Arg	CA239823 NM_001848.3:c.956A>G