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.Ser95Arg
CA390532410
ENST00000555592.1:c.285T>G
CA390532411
ENST00000555592.1:c.285T>A
CA390532417
ENST00000555592.1:c.283A>C