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: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005258334.1:p.Asp990Glu
CA401792332
XM_005258277.1:c.2970C>G
CA401792333
XM_005258277.1:c.2970C>A