Allele Registry

Canonical Allele Identifier: PA645400977

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000308381

RCV001859580

ClinVar Variation:

283508

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Gly359Asn	CA10604516 NM_001848.3:c.1075_1076delinsAA