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: COL17A1 HGNC NCBI

HGVS (amino-acid)	Transcript change
ENSP00000358748.3:p.Arg1144Ter	ENST00000369733.8:c.[3426del;3429T>C;3431... ENST00000369733.8:c.[3426del;3429T>C;3431... ENST00000369733.8:c.[3426del;3429T>C;3431... ENST00000369733.8:c.3430C>T