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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.Ser386Arg
CA401777992
NM_000271.5:c.1158C>G
CA401777994
NM_000271.5:c.1158C>A
CA401778014
NM_000271.5:c.1156A>C