Canonical Allele Identifier: PA2580110512
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2110091
ClinVar RCV Id: RCV003042189
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Arg1274Leu
CA401790342
NM_000271.5:c.3821G>T