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Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016881275.1:p.Ser1082Arg
CA401791615
XM_017025786.1:c.3246T>G
CA401791616
XM_017025786.1:c.3246T>A
CA401791633
XM_017025786.1:c.3244A>C