Allele Registry

Canonical Allele Identifier: PA2830148707

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000313136

RCV001139348

RCV001859611

ClinVar Variation:

284965

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Arg135His	CA2189721 NM_057167.4:c.404G>A