Allele Registry

Canonical Allele Identifier: PA916053512

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000180600

RCV000803816

ClinVar Variation:

199093

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Arg901Gln	CA248099 NM_057164.5:c.2702G>A