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Canonical Allele Identifier: Get Identifier
Gene: HPS4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000514233.1:p.[Asn568_Thr574delinsThrCysArgArgTrpPro;Gln576_Asp577del;Phe580_Gln582delinsIleAla;Val584Ser;Leu586_His588delinsArgPro;Glu590_Phe591del;Gln593_Leu597del]
CA2655894654
ENST00000699244.1:c.1703del