Canonical Allele Identifier: PA2573251004
Gene: NPC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1523959
ClinVar RCV Id: RCV002031362
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006423.1:p.Gln146Arg
CA390531555
NM_006432.5:c.437A>G