Allele Registry

Canonical Allele Identifier: PA658663311

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

469813

ClinVar RCV:

RCV000525313

RCV001139198

RCV001139199

RCV003229838

ClinVar Variation:

476470

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Val824Met	CA10072899 NM_001849.4:c.2470G>A