ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: NPC1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
XP_016881275.1:p.Asp379Ala
CA401778157
XM_017025786.1:c.1136A>C