Allele Registry

Canonical Allele Identifier: PA2830149215

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000347536

RCV000689418

ClinVar Variation:

283020

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Arg749His	CA2189307 NM_057167.4:c.2246G>A