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.Phe542Leu
CA401774773
NM_000271.5:c.1626C>G
CA401774774
NM_000271.5:c.1626C>A
CA401774779
NM_000271.5:c.1624T>C