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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.Leu780Phe
CA379518693
ENST00000396253.7:c.2340A>T
CA379518697
ENST00000396253.7:c.2340A>C