Canonical Allele Identifier: PA2580109907
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2101425
ClinVar RCV Id: RCV003026126
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Arg116Gln
CA8913755
NM_000271.5:c.347G>A