ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827464548
Gene: HPS4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336827.1:p.Ile156Phe
CA411030894
NM_001349898.2:c.466A>T