Allele Registry

Canonical Allele Identifier: PA233821

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

177301

ClinVar RCV:

RCV000153086

RCV000704454

ClinVar Variation:

166934

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Arg843Gln	CA233819 NM_001849.4:c.2528G>A