Allele Registry

Canonical Allele Identifier: PA645401316

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000296392

RCV001036519

ClinVar Variation:

288875

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Val985Ile	CA10071086 NM_001848.3:c.2953G>A