Allele Registry

Canonical Allele Identifier: PA098352

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000481274

RCV002525796

ClinVar Variation:

419392

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Gly272Asp	CA16621025 NM_001848.3:c.815G>A