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Canonical Allele Identifier: Get Identifier
Gene: HPS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001309405.1:p.[Pro231_Leu234delinsArgProThrCys;Ala236_Tyr245delinsProSerSerSerTrpPheArgThrSerThr;Ser247_Thr250delinsAlaArg;Glu252_Pro257delinsGlnGlnArgThrThrPhe;Ser258_Pro259insLeu;Arg260_Arg261insGly]
CA2610461347
NM_001322476.1:c.692del