Allele Registry

Canonical Allele Identifier: PA2580501484

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV002889582

ClinVar Variation:

2027870

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Ser399Ile	CA10071766 NM_058175.3:c.1196G>T