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Canonical Allele Identifier: Get Identifier
Gene: HPS5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000399590.2:p.Phe757Leu
CA379519234
ENST00000438420.6:c.2271T>A
CA379519242
ENST00000438420.6:c.2271T>G
CA379519261
ENST00000438420.6:c.2269T>C