Allele Registry

Canonical Allele Identifier: PA645434458

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000337382

RCV000392176

RCV000653558

RCV003144236

ClinVar Variation:

340383

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Arg930Cys	CA10653091 NM_001849.4:c.2788C>T