Allele Registry

Canonical Allele Identifier: PA658810867

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

488808

ClinVar RCV:

RCV000592435

RCV000690561

ClinVar Variation:

497384

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Gly588Ser	CA10072170 NM_001849.4:c.1762G>A