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
NP_000262.2:p.Phe603Leu
CA401773134
NM_000271.5:c.1809C>G
CA401773136
NM_000271.5:c.1809C>A
CA401773149
NM_000271.5:c.1807T>C