Allele Registry

Canonical Allele Identifier: PA098478

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000653500

RCV000710888

RCV001138980

RCV001138981

RCV003764604

ClinVar Variation:

17168

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Arg498His	CA257730 NM_001849.4:c.1493G>A