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.Ser386Arg
CA401777992
ENST00000269228.10:c.1158C>G
CA401777994
ENST00000269228.10:c.1158C>A
CA401778014
ENST00000269228.10:c.1156A>C