Allele Registry

Canonical Allele Identifier: PA645433173

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

269948

ClinVar RCV:

RCV000370445

RCV000812303

RCV002519190

ClinVar Variation:

285711

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Arg338Cys	CA10071631 NM_001849.4:c.1012C>T