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Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016881276.1:p.[Leu414_Lys417del;Ile419_Leu444del]
CA2695227248
XM_017025787.1:c.1241_1242del