Allele Registry

Canonical Allele Identifier: PA221806

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

99798

ClinVar RCV:

RCV000173745

RCV001854408

ClinVar Variation:

93896

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Gly299Glu	CA221804 NM_001848.3:c.896G>A