Allele Registry

Canonical Allele Identifier: PA645400912

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000484105

RCV001855151

RCV002250617

ClinVar Variation:

285482

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Lys310del	CA10605126 NM_001848.3:c.928_930del