Allele Registry

Canonical Allele Identifier: PA239831

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000392800

ClinVar Variation:

194042

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Gly355Cys	CA239829 NM_001849.4:c.1063G>T