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Canonical Allele Identifier: Get Identifier
Gene: HPS4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000514238.1:p.[Gln442_Ala453delinsSerSerLysThrIleLeuAlaIleAlaAlaLysPro;Ile455Phe;Arg457_Leu461delinsGluGlnThrLeuSer;Arg463_Arg467delinsGluGlyProAlaGly;Leu469_Leu471delinsCysTyrCys]
CA2818606393
ENST00000699251.1:c.1324del