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Canonical Allele Identifier: Get Identifier
Gene: NPC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000451112.2:p.[Lys112_Lys134del;Gln136_Leu138del;Cys140_Ile143delinsGln]
CA2580088713
ENST00000555619.6:c.336_339delinsCTT