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Canonical Allele Identifier: Get Identifier
Gene: HPS4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016884541.1:p.[Asn481_Thr487delinsThrCysArgArgTrpPro;Gln489_Asp490del;Phe493_Gln495delinsIleAla;Val497Ser;Leu499_His501delinsArgPro;Glu503_Phe504del;Gln506_Leu510del]
CA2655894654
XM_017029052.2:c.1442del