Allele Registry

Canonical Allele Identifier: PA645454727

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000404558

RCV001855121

ClinVar Variation:

283322

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Arg406His	CA2189680 NM_004369.4:c.1217G>A