Allele Registry

Canonical Allele Identifier: PA645455401

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

269384

ClinVar RCV:

RCV000406654

RCV000701359

ClinVar Variation:

285147

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Pro1894Ser	CA2188606 NM_004369.4:c.5680C>T