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
ENSP00000450887.1:p.Phe85Leu
CA390532475
ENST00000555592.1:c.255T>G
CA390532476
ENST00000555592.1:c.255T>A
CA390532481
ENST00000555592.1:c.253T>C