Allele Registry

Canonical Allele Identifier: PA2830147606

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

269932

ClinVar RCV:

RCV000360053

RCV001855157

RCV003278739

ClinVar Variation:

285695

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Glu1252Lys	CA10605207 NM_057166.5:c.3754G>A