Allele Registry

Canonical Allele Identifier: PA916053789

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

288812

ClinVar RCV:

RCV000369073

RCV002523125

ClinVar Variation:

335131

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Glu873Lys	CA2189207 NM_057167.4:c.2617G>A