Allele Registry

Canonical Allele Identifier: PA2830147663

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

450669

ClinVar RCV:

RCV000543905

RCV000593713

RCV001329871

RCV002526737

ClinVar Variation:

476537

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Glu1305Lys	CA2188590 NM_057166.5:c.3913G>A