Allele Registry

Canonical Allele Identifier: PA658677015

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000728295

RCV000812792

RCV004553145

ClinVar Variation:

451229

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Val2151Leu	CA2188286 NM_004369.4:c.6451G>C