Canonical Allele Identifier: PA2580109903
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1705792
ClinVar RCV Id: RCV002284102
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Cys113Tyr
CA401785632
NM_000271.5:c.338G>A