Canonical Allele Identifier: PA102395
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2978
ClinVar RCV Id: RCV000003112 RCV002509143
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Cys113Arg
CA252503
NM_000271.5:c.337T>C