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Canonical Allele Identifier: Get Identifier
Gene: HPS5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009147.3:p.Gln791His
CA379518490
NM_007216.4:c.2373G>T
CA379518492
NM_007216.4:c.2373G>C