Allele Registry

Canonical Allele Identifier: PA2830149933

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000653513

RCV002536303

RCV003144450

ClinVar Variation:

542964

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Pro1691Leu	CA2188604 NM_057167.4:c.5072C>T