Allele Registry

Canonical Allele Identifier: PA645455053

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000287686

RCV001301947

RCV003330620

ClinVar Variation:

282127

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Phe842Ser	CA2189376 NM_004369.4:c.2525T>C