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.Phe941Leu
CA401792674
XM_006722479.3:c.2823T>G
CA401792675
XM_006722479.3:c.2823T>A
CA401792680
XM_006722479.3:c.2821T>C