Canonical Allele Identifier: PA2829702792
Gene: HPS5 HGNC NCBI

Linked Data

ClinVar Variation Id: 21821
ClinVar RCV Id: RCV000021032 RCV000150824 RCV001520026
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009147.3:p.Thr984Ile
CA176328
NM_007216.4:c.2951C>T