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Canonical Allele Identifier: Get Identifier
Gene: HPS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000514164.1:p.[Met325_Val339delinsTrpMet;His341_Pro348delinsPhe;Arg350_Asp354del]
CA340387
ENST00000699146.1:c.972del