Allele Registry

Canonical Allele Identifier: PA2830149702

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000194796

RCV000693810

RCV000725387

ClinVar Variation:

210751

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Pro1424Ser	CA209210 NM_057167.4:c.4270C>T