Allele Registry

Canonical Allele Identifier: PA236166

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000171351

ClinVar Variation:

191167

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Asp43Ala	CA236164 NM_001848.3:c.128A>C