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Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000269228.4:p.[Ile1109Tyr;Leu1111_Leu1121del;Ser1123_Met1138del]
CA16041910
ENST00000269228.10:c.3325del