Canonical Allele Identifier: PA2499230661
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1012908
ClinVar RCV Id: RCV001311134 RCV002543569
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Thr933Ile
CA297081212
NM_000271.5:c.2798C>T