Allele Registry

Canonical Allele Identifier: PA645433811

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000488099

RCV001452859

ClinVar Variation:

425279

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Asp870Asn	CA10072948 NM_001849.4:c.2608G>A