Allele Registry

Canonical Allele Identifier: PA645433166

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000230758

RCV001386985

ClinVar Variation:

224657

1073867

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Lys318Asn	CA10575985 NM_001849.4:c.954G>T CA410527027 NM_001849.4:c.954G>C