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Canonical Allele Identifier: Get Identifier
Gene: NPC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000442488.1:p.Ser108Arg
CA390532316
ENST00000541064.5:c.324C>G
CA390532317
ENST00000541064.5:c.324C>A
CA390532323
ENST00000541064.5:c.322A>C