Canonical Allele Identifier: PA2828102989
Gene: NPC2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350617.1:p.Val125Leu
CA263658866
NM_001363688.1:c.373G>T
CA390531952
NM_001363688.1:c.373G>C