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Canonical Allele Identifier: Get Identifier
Gene: HPS5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011518166.1:p.[Asp978_Arg981delinsGlnThr;Cys983Ala;Phe985_Tyr989del;Ile991_Glu995delinsValValSerGly;Glu997_Asn1005delinsAsp;Val1007del]
CA916084333
XM_011519864.1:c.2930_2931dup