Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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Canonical Allele Identifier: PA2828810822

Gene: SETBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2066552

ClinVar RCV Id: RCV002966171 RCV003250641

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001366071.1:p.Phe1317Leu	CA8946028 NM_001379142.1:c.3951C>G CA402325545 NM_001379142.1:c.3949T>C CA402325550 NM_001379142.1:c.3951C>A