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Canonical Allele Identifier: Get Identifier
Gene: NPC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000451314.1:p.Phe18Leu
CA7268193
ENST00000554482.1:c.54C>G
CA390532857
ENST00000554482.1:c.54C>A
CA487220783
ENST00000554482.1:c.52T>C