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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.[Met411_Val425delinsTrpMet;His427_Pro434delinsPhe;Arg436_Asp440del]
CA340387
ENST00000699134.1:c.1230del