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
ENSP00000269228.4:p.Phe287Leu
CA401780828
ENST00000269228.10:c.861T>G
CA401780833
ENST00000269228.10:c.861T>A
CA401780848
ENST00000269228.10:c.859T>C