Allele Registry

Canonical Allele Identifier: PA645433537

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

266627

ClinVar RCV:

RCV000362949

RCV001855103

ClinVar Variation:

282390

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Glu846Lys	CA10072920 NM_001849.4:c.2536G>A