Allele Registry

Canonical Allele Identifier: PA2830152385

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000079868

RCV000320471

RCV000380396

RCV000710891

RCV000990369

RCV001664320

ClinVar Variation:

93929

HGVS (amino-acid)	Matching Registered Transcripts
NP_478054.2:p.Arg680His	CA147453 NM_058174.3:c.2039G>A