Allele Registry

Canonical Allele Identifier: PA658810679

Gene: COL6A1 HGNC NCBI

ClinVar Variation Id: 500366

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Ala862Val	CA10070965 NM_001848.3:c.2585C>T