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Canonical Allele Identifier: Get Identifier
Gene: HPS4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000415081.3:p.[Thr641del;Gln643_Asp644del;Phe647_Gln649delinsIleAla;Val651Ser;Leu653_His655delinsArgPro;Glu657_Phe658del;Gln660_Arg670del]
CA342357
ENST00000422379.3:c.1920del
CA920347849
ENST00000422379.3:c.1921del