Allele Registry

Canonical Allele Identifier: PA2830145179

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000406679

RCV000793471

ClinVar Variation:

284057

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Arg333His	CA2189453 NM_057164.5:c.998G>A