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Canonical Allele Identifier: Get Identifier
Gene: HPS4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016884542.1:p.[Asn476_Thr482delinsThrCysArgArgTrpPro;Gln484_Asp485del;Phe488_Gln490delinsIleAla;Val492Ser;Leu494_His496delinsArgPro;Glu498_Phe499del;Gln501_Leu505del]
CA2655894654
XM_017029053.1:c.1427del