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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.Ser114Arg
CA401785585
NM_000271.5:c.342C>G
CA401785588
NM_000271.5:c.342C>A
CA401785610
NM_000271.5:c.340A>C