Canonical Allele Identifier: PA2580110059
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2258757
ClinVar RCV Id: RCV002772952
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Ile439Leu
CA401777050
NM_000271.5:c.1315A>T
CA401777054
NM_000271.5:c.1315A>C