Allele Registry

Canonical Allele Identifier: PA645401318

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

360458

ClinVar RCV:

RCV000413854

RCV000727243

RCV001088252

RCV004544724

ClinVar Variation:

373479

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Lys990Gln	CA10071090 NM_001848.3:c.2968A>C