Allele Registry

Canonical Allele Identifier: PA2830152449

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000335376

RCV000391271

RCV000725902

RCV001082860

RCV001261892

RCV004535372

ClinVar Variation:

286822

HGVS (amino-acid)	Matching Registered Transcripts
NP_478054.2:p.Arg724Cys	CA10072456 NM_058174.3:c.2170C>T