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: NPC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000451112.1:p.Trp141Arg
CA7268125
ENST00000555619.5:c.421T>C
CA390531687
ENST00000555619.5:c.421T>A