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Canonical Allele Identifier: Get Identifier
Gene: HPS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000514156.1:p.[Met238_Val252delinsTrpMet;His254_Pro261delinsPhe;Arg263_Asp267del]
CA340387
ENST00000699139.1:c.711del