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Canonical Allele Identifier: Get Identifier
Gene: HPS4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011528797.1:p.[Gln271_Ala282delinsSerSerLysThrIleLeuAlaIleAlaAlaLysPro;Ile284Phe;Arg286_Leu290delinsGluGlnThrLeuSer;Arg292_Arg296delinsGluGlyProAlaGly;Leu298_Leu300delinsCysTyrCys]
CA2818606393
XM_011530495.2:c.811del