Canonical Allele Identifier: PA2741813913
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2546667
ClinVar RCV Id: RCV003292689
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Thr124Ser
CA401785360
NM_000271.5:c.370A>T