Allele Registry

Canonical Allele Identifier: PA645401064

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000328793

RCV001855140

ClinVar Variation:

284265

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Gln451Arg	CA10070260 NM_001848.3:c.1352A>G