Allele Registry

Canonical Allele Identifier: PA2830152132

Gene: COL6A2 HGNC NCBI

ClinVar Variation Id: 498126

HGVS (amino-acid)	Matching Registered Transcripts
NP_478054.2:p.Pro476His	CA10071871 NM_058174.3:c.1427C>A