Canonical Allele Identifier: PA102768
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2967
ClinVar RCV Id: RCV000003101 RCV000254672 RCV000587869 RCV000624446 RCV003335012 RCV003964790
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Ile1061Thr
CA340033
NM_000271.5:c.3182T>C