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Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016881274.1:p.Phe412Leu
CA401777835
XM_017025785.1:c.1236T>G
CA401777837
XM_017025785.1:c.1236T>A
CA401777848
XM_017025785.1:c.1234T>C