Allele Registry

Canonical Allele Identifier: PA645401275

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000296391

RCV000326450

RCV001206342

RCV002519143

ClinVar Variation:

284129

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Arg888Trp	CA10070995 NM_001848.3:c.2662C>T