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Canonical Allele Identifier: Get Identifier
Gene: NPC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000451180.1:p.Phe85Leu
CA390532475
ENST00000553490.5:c.255T>G
CA390532476
ENST00000553490.5:c.255T>A
CA390532481
ENST00000553490.5:c.253T>C