Canonical Allele Identifier: PA2830395708
Gene: HPS5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1915707
ClinVar RCV Id: RCV002594023
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_852609.1:p.Thr858Ser
CA379514880
NM_181508.1:c.2573C>G
CA379514883
NM_181508.1:c.2572A>T