Canonical Allele Identifier: PA2580109925
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2229051
ClinVar RCV Id: RCV002692457
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Phe152Ile
CA401784737
NM_000271.5:c.454T>A