Canonical Allele Identifier: PA2573200975
Gene: HPS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1506293
ClinVar RCV Id: RCV002006622
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001336830.1:p.Glu525Val
CA411026554
NM_001349901.1:c.1574A>T