Allele Registry

Canonical Allele Identifier: PA2830147783

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000334260

RCV001059032

ClinVar Variation:

280028

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Gly1446Val	CA10602841 NM_057166.5:c.4337G>T