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Canonical Allele Identifier: Get Identifier
Gene: HPS4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000514235.1:p.[Asn269_Thr275delinsThrCysArgArgTrpPro;Gln277_Asp278del;Phe281_Gln283delinsIleAla;Val285Ser;Leu287_His289delinsArgPro;Glu291_Phe292del;Gln294_Leu298del]
CA2655894654
ENST00000699247.1:c.806del