Allele Registry

Canonical Allele Identifier: PA645400910

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

267927

ClinVar RCV:

RCV000272645

RCV001379719

ClinVar Variation:

283690

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Gly305Glu	CA10604561 NM_001848.3:c.914G>A