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Canonical Allele Identifier: Get Identifier
Gene: NPC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000238633.2:p.Leu148_Ter149insTyrValProHis
CA390530677
ENST00000238633.6:c.447A>T
CA390530680
ENST00000238633.6:c.447A>C