Canonical Allele Identifier: PA658804771
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 499258
ClinVar RCV Id: RCV000596349 RCV000649025 RCV003952965
ClinVar Variation Id: 1932106
ClinVar RCV Id: RCV002605692
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Phe842Leu
CA8913061
NM_000271.5:c.2524T>C
CA401793229
NM_000271.5:c.2526T>G
CA401793230
NM_000271.5:c.2526T>A