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Canonical Allele Identifier: Get Identifier
Gene: NPC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000450887.1:p.Val115Leu
CA390532275
ENST00000555592.1:c.343G>T
CA390532276
ENST00000555592.1:c.343G>C