Allele Registry

Canonical Allele Identifier: PA2830148499

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000598205

RCV000804675

ClinVar Variation:

502371

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Pro2342Leu	CA2187433 NM_057166.5:c.7025C>T