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Canonical Allele Identifier: Get Identifier
Gene: HPS4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011528796.1:p.[Asn397_Thr403delinsThrCysArgArgTrpPro;Gln405_Asp406del;Phe409_Gln411delinsIleAla;Val413Ser;Leu415_His417delinsArgPro;Glu419_Phe420del;Gln422_Leu426del]
CA2655894654
XM_011530494.2:c.1190del