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_016881275.1:p.Gly992Trp
CA115895
XM_017025786.1:c.2974G>T
CA658799013
XM_017025786.1:c.2973_2974delinsAT