Allele Registry

Canonical Allele Identifier: PA2830147645

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

269384

ClinVar RCV:

RCV000406654

RCV000701359

ClinVar Variation:

285147

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Pro1287Ser	CA2188606 NM_057166.5:c.3859C>T