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Canonical Allele Identifier: Get Identifier
Gene: HPS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000352652.3:p.[Met120_Val134delinsTrpMet;His136_Pro143delinsPhe;Arg145_Asp149del]
CA340387
ENST00000359632.7:c.357del