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Canonical Allele Identifier: Get Identifier
Gene: NPC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000442488.1:p.Leu125_Ter126insTyrValProHis
CA390530677
ENST00000541064.5:c.378A>T
CA390530680
ENST00000541064.5:c.378A>C