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Canonical Allele Identifier: Get Identifier
Gene: HPS5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000265967.5:p.Cys983Ser
CA379514324
ENST00000349215.8:c.2948G>C
CA379514351
ENST00000349215.8:c.2947T>A