Allele Registry

Canonical Allele Identifier: PA240294

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000320695

RCV001071986

ClinVar Variation:

194366

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Gly338Glu	CA240292 NM_001848.3:c.1013G>A