ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825740503
Gene: SETBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
425151
ClinVar RCV Id:
RCV000488064
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123582.1:p.Ile48Met
CA16621717
NM_001130110.2:c.144C>G