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Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016881274.1:p.[Ile1126Tyr;Leu1128_Leu1138del;Ser1140_Met1155del]
CA16041910
XM_017025785.1:c.3376del