Allele Registry

Canonical Allele Identifier: PA645400982

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

267131

ClinVar RCV:

RCV000272761

RCV000401661

RCV001079041

ClinVar Variation:

282894

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Glu372Gly	CA10070083 NM_001848.3:c.1115A>G