Canonical Allele Identifier: PA2827466049
Gene: HPS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2095291
ClinVar RCV Id: RCV003013757
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001336828.1:p.Val494Ile
CA10163313
NM_001349899.2:c.1480G>A