Allele Registry

Canonical Allele Identifier: PA658810619

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

489992

ClinVar RCV:

RCV000595806

RCV001209850

ClinVar Variation:

498568

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Pro613Thr	CA10070639 NM_001848.3:c.1837C>A