Allele Registry

Canonical Allele Identifier: PA2830152495

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000362319

RCV000764267

RCV000809905

ClinVar Variation:

288586

HGVS (amino-acid)	Matching Registered Transcripts
NP_478054.2:p.Asp751Asn	CA10072486 NM_058174.3:c.2251G>A