Canonical Allele Identifier: PA102293
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 597436
ClinVar RCV Id: RCV000733557 RCV001814228
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Asp1097Asn
CA297079250
NM_000271.5:c.3289G>A