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Canonical Allele Identifier: Get Identifier
Gene: HPS4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000514231.1:p.[Thr593del;Gln595_Asp596del;Phe599_Gln601delinsIleAla;Val603Ser;Leu605_His607delinsArgPro;Glu609_Phe610del;Gln612_Arg622del]
CA342357
ENST00000699242.1:c.1776del
CA920347849
ENST00000699242.1:c.1777del