Allele Registry

Canonical Allele Identifier: PA916054254

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000300421

ClinVar Variation:

284386

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Gly286Val	CA10604780 NM_058175.3:c.857G>T