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: NPC1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_005258334.1:p.Arg1014Ser	CA401792186 XM_005258277.1:c.3042A>C CA401792187 XM_005258277.1:c.3042A>T