Canonical Allele Identifier: PA2827470247
Gene: HPS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 163674
ClinVar RCV Id: RCV000150822 RCV000260978 RCV001519477 RCV001701685
ClinVar Variation Id: 2698863
ClinVar RCV Id: RCV003544350
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001336833.1:p.Glu229Gly
CA176318
NM_001349904.2:c.686A>G
CA2697552595
NM_001349904.2:c.686_687delinsGT