Allele Registry

Canonical Allele Identifier: PA645455529

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

269427

ClinVar RCV:

RCV000276298

RCV002521932

ClinVar Variation:

285190

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Glu3002Gly	CA2187384 NM_004369.4:c.9005A>G