Allele Registry

Canonical Allele Identifier: PA658701522

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

486291

ClinVar RCV:

RCV000584913

RCV000653580

ClinVar Variation:

493328

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Arg876His	CA321979833 NM_001849.4:c.2627G>A