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Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Cys113Ser
CA401785627
NM_000271.5:c.338G>C
CA401785647
NM_000271.5:c.337T>A