Allele Registry

Canonical Allele Identifier: PA645455056

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

267257

ClinVar RCV:

RCV000347536

RCV000689418

ClinVar Variation:

283020

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Arg955His	CA2189307 NM_004369.4:c.2864G>A