Allele Registry

Canonical Allele Identifier: PA2830149524

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

450899

ClinVar RCV:

RCV000546203

RCV000727675

RCV000765643

ClinVar Variation:

476523

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Ile1231Phe	CA2188918 NM_057167.4:c.3691A>T