Allele Registry

Canonical Allele Identifier: PA2830146077

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

272678

ClinVar RCV:

RCV000291815

RCV000363927

RCV000653538

RCV003165760

RCV003488503

ClinVar Variation:

288441

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Gly510Asp	CA2189470 NM_057165.5:c.1529G>A