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Canonical Allele Identifier: Get Identifier
Gene: HPS5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000379552.3:p.Leu777Phe
CA218578600
ENST00000396253.7:c.2331G>T
CA379518755
ENST00000396253.7:c.2331G>C