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.Val950Leu
CA401792497
ENST00000269228.10:c.2848G>T
CA401792498
ENST00000269228.10:c.2848G>C