Allele Registry

Canonical Allele Identifier: PA645400917

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

273888

ClinVar RCV:

RCV000498360

RCV001859702

ClinVar Variation:

289651

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Gly311Asp	CA10606509 NM_001848.3:c.932G>A