Canonical Allele Identifier: PA891845281
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 581349
ClinVar RCV Id: RCV000705147
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Gln117Arg
CA401785525
NM_000271.5:c.350A>G