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: NPC2 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000451112.1:p.Gln131His	CA390531867 ENST00000555619.5:c.393G>T CA390531869 ENST00000555619.5:c.393G>C