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
NP_001350617.1:p.Ser70Arg
CA390532565
NM_001363688.1:c.210C>G
CA390532566
NM_001363688.1:c.210C>A
CA390532572
NM_001363688.1:c.208A>C