Allele Registry

Canonical Allele Identifier: PA2830145183

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000367426

RCV000542766

RCV000726195

RCV003992263

ClinVar Variation:

288643

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Pro337Leu	CA2189449 NM_057164.5:c.1010C>T