Allele Registry

Canonical Allele Identifier: PA2830150813

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

267990

ClinVar RCV:

RCV000658012

RCV001082829

RCV003488497

RCV004547684

ClinVar Variation:

283753

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Arg2787His	CA2187389 NM_057167.4:c.8360G>A