Canonical Allele Identifier: PA2580343829
Gene: NPC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1730580
ClinVar RCV Id: RCV002321048
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006423.1:p.Lys112Arg
CA390532291
NM_006432.5:c.335A>G