Canonical Allele Identifier: PA2828609008
Gene: NPC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 290576
ClinVar RCV Id: RCV000338408 RCV000763944 RCV002522031
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001362369.1:p.Asp91Asn
CA7268155
NM_001375440.1:c.271G>A