Canonical Allele Identifier: PA2828102950
Gene: NPC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1971680
ClinVar RCV Id: RCV002750116
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350617.1:p.Ile87Phe
CA390532469
NM_001363688.1:c.259A>T