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
ENSP00000451180.1:p.Lys123Asn
CA390531966
ENST00000553490.5:c.369A>T
CA390531967
ENST00000553490.5:c.369A>C