Allele Registry

Canonical Allele Identifier: PA295269

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV002047237

ClinVar Variation:

1351958

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Gly292Ser	CA295267 NM_001849.4:c.874G>A