Allele Registry

Canonical Allele Identifier: PA221803

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000173743

RCV000173744

RCV001390509

RCV001813755

RCV002483138

ClinVar Variation:

93895

1076562

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Gly293Arg	CA221801 NM_001848.3:c.877G>A CA410521779 NM_001848.3:c.877G>C