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.Met277Ile
CA401781017
XM_017025786.1:c.831G>T
CA401781020
XM_017025786.1:c.831G>C
CA401781022
XM_017025786.1:c.831G>A