Allele Registry

Canonical Allele Identifier: PA645401206

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000274606

RCV001855128

ClinVar Variation:

283710

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Phe762Ser	CA10604568 NM_001848.3:c.2285T>C