Allele Registry

Canonical Allele Identifier: PA2830146671

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000249892

RCV000653662

RCV001711471

RCV002516823

ClinVar Variation:

199091

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Thr1200Met	CA248093 NM_057165.5:c.3599C>T