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
XP_006722542.1:p.Asp1114Glu
CA401791510
XM_006722479.3:c.3342C>G
CA401791511
XM_006722479.3:c.3342C>A