Allele Registry

Canonical Allele Identifier: PA248101

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000180600

RCV000803816

ClinVar Variation:

199093

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Arg1308Gln	CA248099 NM_004369.4:c.3923G>A