Canonical Allele Identifier: PA102867
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372435
ClinVar RCV Id: RCV000414430 RCV000665209
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Met1142Thr
CA8912782
NM_000271.5:c.3425T>C