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Canonical Allele Identifier: Get Identifier
Gene: HPS4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_006724423.1:p.[Asn446_Thr452delinsThrCysArgArgTrpPro;Gln454_Asp455del;Phe458_Gln460delinsIleAla;Val462Ser;Leu464_His466delinsArgPro;Glu468_Phe469del;Gln471_Leu475del]
CA2655894654
XM_006724360.3:c.1337del