Canonical Allele Identifier: PA645411512
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 235359
ClinVar RCV Id: RCV000390564 RCV000224097 RCV001086756 RCV003947735
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Arg411Gln
CA8913512
NM_000271.5:c.1232G>A