Canonical Allele Identifier: PA2580109913
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2229972
ClinVar RCV Id: RCV002697844
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Asp128His
CA401785297
NM_000271.5:c.382G>C