Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: COL1A1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000225964.5:p.Gly174del	CA260317 ENST00000225964.9:c.517G>T CA400226125 ENST00000225964.9:c.520G>T CA2263920284 ENST00000225964.9:c.516_518del