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Canonical Allele Identifier: Get Identifier
Gene: HPS5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000431758.1:p.[Lys180_Leu181delinsGlnThr;His183_Leu184delinsThr;Glu186_Leu209del]
CA342558
ENST00000531848.1:c.537dup