Allele Registry

Canonical Allele Identifier: PA645455044

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

274404

ClinVar RCV:

RCV000378139

RCV001329867

ClinVar Variation:

290167

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Arg768His	CA2189433 NM_004369.4:c.2303G>A