Allele Registry

Canonical Allele Identifier: PA2580501549

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV002736731

ClinVar Variation:

1977658

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Gly511Arg	CA410533609 NM_058175.3:c.1531G>C