Canonical Allele Identifier: PA2573166492
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1346566
ClinVar RCV Id: RCV002050148
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Glu110Gln
CA401785737
NM_000271.5:c.328G>C