Allele Registry

Canonical Allele Identifier: PA2830145263

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000287686

RCV001301947

RCV003330620

ClinVar Variation:

282127

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Phe435Ser	CA2189376 NM_057164.5:c.1304T>C