Allele Registry

Canonical Allele Identifier: PA645400587

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

273180

ClinVar RCV:

RCV000338991

RCV002518061

ClinVar Variation:

288943

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Thr25Asn	CA10069432 NM_001848.3:c.74C>A