Allele Registry

Canonical Allele Identifier: PA645433396

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

268875

ClinVar RCV:

RCV000299418

RCV001855143

ClinVar Variation:

284638

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Arg610Cys	CA10072303 NM_001849.4:c.1828C>T