Canonical Allele Identifier: PA2828608930
Gene: NPC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 314239
ClinVar RCV Id: RCV000335990 RCV000595194 RCV000818277 RCV002522323
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001362369.1:p.Lys71Arg
CA7268167
NM_001375440.1:c.212A>G