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Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005258335.1:p.[Gln922_Met924delinsGluHisGly;Cys926_Met929delinsArgArgHis;Cys931_Ser935del;Val937del;Phe941_Ile952del]
CA913014994
XM_005258278.5:c.2763_2764del