Canonical Allele Identifier: PA297008
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2360196
ClinVar RCV Id: RCV002986671

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Val148Ile
CA297007
NM_000271.5:c.442G>A