Allele Registry

Canonical Allele Identifier: PA645400972

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

270383

ClinVar RCV:

RCV000379396

RCV000801381

ClinVar Variation:

286146

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Gly341Cys	CA10605376 NM_001848.3:c.1021G>T