Allele Registry

Canonical Allele Identifier: PA2830147635

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000531292

RCV003144374

RCV003352926

RCV004553251

ClinVar Variation:

476536

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Arg1279His	CA2188612 NM_057166.5:c.3836G>A