Allele Registry

Canonical Allele Identifier: PA645433379

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000363263

RCV000393901

RCV000593658

RCV000873809

RCV001812879

ClinVar Variation:

340369

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Arg569Gln	CA10072124 NM_001849.4:c.1706G>A