Canonical Allele Identifier: PA2829965109
Gene: HPS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2379255
ClinVar RCV Id: RCV002684231
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_071364.4:p.Glu639Lys
CA411023872
NM_022081.5:c.1915G>A