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.Phe120Leu
CA401785430
ENST00000269228.10:c.360T>G
CA401785432
ENST00000269228.10:c.360T>A
CA401785456
ENST00000269228.10:c.358T>C