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.Phe620Leu
CA401773134
XM_006722479.3:c.1860C>G
CA401773136
XM_006722479.3:c.1860C>A
CA401773149
XM_006722479.3:c.1858T>C