Allele Registry

Canonical Allele Identifier: PA645433097

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

272515

ClinVar RCV:

RCV000394295

RCV000537791

RCV001136630

ClinVar Variation:

288278

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Glu210Lys	CA10071356 NM_001849.4:c.628G>A