Allele Registry

Canonical Allele Identifier: PA645434525

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000284297

RCV000824045

ClinVar Variation:

288392

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Glu959Gln	CA10073071 NM_001849.4:c.2875G>C