Allele Registry

Canonical Allele Identifier: PA645401312

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

272248

ClinVar RCV:

RCV000372586

RCV000691631

ClinVar Variation:

288011

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Ile967Val	CA10071066 NM_001848.3:c.2899A>G