Allele Registry

Canonical Allele Identifier: PA658659283

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

471261

ClinVar RCV:

RCV000547261

RCV004024369

ClinVar Variation:

476442

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Pro294Ala	CA10069824 NM_001848.3:c.880C>G