Allele Registry

Canonical Allele Identifier: PA2830150779

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

493795

ClinVar RCV:

RCV000598205

RCV000804675

ClinVar Variation:

502371

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Pro2743Leu	CA2187433 NM_057167.4:c.8228C>T