Allele Registry

Canonical Allele Identifier: PA645455002

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

286109

ClinVar RCV:

RCV000346069

RCV001239780

RCV003137962

RCV004021805

ClinVar Variation:

335139

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Thr525Met	CA2189591 NM_004369.4:c.1574C>T