Canonical Allele Identifier: PA891866460
Gene: NPC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 100734
ClinVar RCV Id: RCV000087100 RCV000153589 RCV001121868 RCV003935083 RCV002281928
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350617.1:p.Val148Ile
CA234414
NM_001363688.1:c.442G>A