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Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016881275.1:p.[Leu1116_Leu1117delinsPro;Cys1119_Glu1120del;Trp1122_Gly1146del]
CA2695227423
XM_017025786.1:c.3347_3348del