Canonical Allele Identifier: PA2829702686
Gene: HPS5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1040880
ClinVar RCV Id: RCV001344603
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009147.3:p.Ser759Cys
CA379519173
NM_007216.4:c.2276C>G