Allele Registry

Canonical Allele Identifier: PA645401189

Gene: COL6A1 HGNC NCBI

ClinVar Variation Id: 283168

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Pro719Leu	CA10070782 NM_001848.3:c.2156C>T