Canonical Allele Identifier: PA2827471869
Gene: HPS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 163670
ClinVar RCV Id: RCV000150818 RCV000350203 RCV001519473 RCV001701683
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001336834.1:p.Gln625His
CA176298
NM_001349905.1:c.1875G>T
CA411024045
NM_001349905.1:c.1875G>C