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.Phe152Leu
CA401784723
ENST00000269228.10:c.456T>G
CA401784727
ENST00000269228.10:c.456T>A
CA401784740
ENST00000269228.10:c.454T>C