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.Phe1167Leu
CA401791050
ENST00000269228.10:c.3501C>G
CA401791051
ENST00000269228.10:c.3501C>A
CA401791056
ENST00000269228.10:c.3499T>C