Allele Registry

Canonical Allele Identifier: PA658663233

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000594262

RCV001085505

RCV001141593

ClinVar Variation:

476454

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Glu536Lys	CA10072019 NM_001849.4:c.1606G>A