Allele Registry

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Canonical Allele Identifier: Get Identifier

Gene: NPC1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_005258334.1:p.Phe287Leu	CA401780828 XM_005258277.1:c.861T>G CA401780833 XM_005258277.1:c.861T>A CA401780848 XM_005258277.1:c.859T>C