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Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000464755.1:p.Leu16Phe
CA115898
ENST00000590723.5:c.48G>C
CA401790750
ENST00000590723.5:c.48G>T