Allele Registry

Canonical Allele Identifier: PA645433143

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000300421

ClinVar Variation:

284386

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Gly286Val	CA10604780 NM_001849.4:c.857G>T