Canonical Allele Identifier: PA2828102943
Gene: NPC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3225584
ClinVar RCV Id: RCV004516866
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350617.1:p.His75Tyr
CA7268164
NM_001363688.1:c.223C>T