Allele Registry

Canonical Allele Identifier: PA916053507

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000653522

RCV000725141

RCV001139021

RCV001824721

ClinVar Variation:

282774

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Arg894Gln	CA2189048 NM_057164.5:c.2681G>A