Canonical Allele Identifier: PA2827464060
Gene: HPS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2532470
ClinVar RCV Id: RCV003250218
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001336825.1:p.Glu492Ala
CA411026788
NM_001349896.1:c.1475A>C