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.Ser1082Arg
CA401791615
ENST00000269228.10:c.3246T>G
CA401791616
ENST00000269228.10:c.3246T>A
CA401791633
ENST00000269228.10:c.3244A>C