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
ENSP00000451112.2:p.Cys140Ser
CA390531697
ENST00000555619.6:c.419G>C
CA390531703
ENST00000555619.6:c.418T>A