Allele Registry

Canonical Allele Identifier: PA645401078

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000302645

RCV000332382

RCV000819830

ClinVar Variation:

290085

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Thr518Asn	CA10070395 NM_001848.3:c.1553C>A