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Canonical Allele Identifier: Get Identifier
Gene: HPS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000514151.1:p.[Asp97_Glu102delinsThrThrProArgAlaArg;Asp104_Phe120delinsThrCysGlyGlySerCysMetCysSerSerThrCysLeuLysCysThrLeu;Leu122_Asp126delinsTrp]
CA341632
ENST00000699134.1:c.288del