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.Met631Ile
CA401772275
NM_000271.5:c.1893G>T
CA401772277
NM_000271.5:c.1893G>A
CA401772279
NM_000271.5:c.1893G>C