Allele Registry

Canonical Allele Identifier: PA645400888

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000401877

ClinVar Variation:

285457

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Gly278Glu	CA10605117 NM_001848.3:c.833G>A