Canonical Allele Identifier: PA2580110342
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1999767
ClinVar RCV Id: RCV002819844

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Glu1089Gly
CA401791569
NM_000271.5:c.3266A>G