Allele Registry

Canonical Allele Identifier: PA645455088

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 289131

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Thr1140Met	CA2189174 NM_004369.4:c.3419C>T