Canonical Allele Identifier: PA2830395656
Gene: HPS5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2094943
ClinVar RCV Id: RCV003012085
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_852609.1:p.Gln791Leu
CA379518494
NM_181508.1:c.2372A>T