Allele Registry

Canonical Allele Identifier: PA2573295323

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

1365022

ClinVar RCV:

RCV002017875

ClinVar Variation:

1509401

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Arg489Gly	CA410531926 NM_058175.3:c.1465C>G