Canonical Allele Identifier: PA3085444977
Gene: NPC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Cys177Ser
CA401782611
NM_000271.5:c.530G>C
CA401782621
NM_000271.5:c.529T>A