Allele Registry

Canonical Allele Identifier: PA2830147876

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000728295

RCV000812792

RCV004553145

ClinVar Variation:

451229

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Val1544Leu	CA2188286 NM_057166.5:c.4630G>C