Canonical Allele Identifier: PA2573166609
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1356758
ClinVar RCV Id: RCV001870257
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Ile437Val
CA401777089
NM_000271.5:c.1309A>G