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Canonical Allele Identifier: Get Identifier
Gene: HPS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000514140.1:p.[Met196_Val210delinsTrpMet;His212_Pro219delinsPhe;Arg221_Asp225del]
CA340387
ENST00000699118.1:c.585del