Allele Registry

Canonical Allele Identifier: PA645455071

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

274174

ClinVar RCV:

RCV000653597

RCV000726400

RCV000765645

RCV001136882

ClinVar Variation:

289937

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Arg1075Trp	CA2189211 NM_004369.4:c.3223C>T