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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000464755.1:p.Leu47Pro
CA401790539
ENST00000590723.5:c.140T>C
CA3268250795
ENST00000590723.5:c.140_141delinsCT