Canonical Allele Identifier: PA2827467052
Gene: HPS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1464978
ClinVar RCV Id: RCV001963588
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001336829.1:p.Pro490Leu
CA411027036
NM_001349900.2:c.1469C>T