ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA173414
Gene: SETBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
159884
ClinVar RCV Id:
RCV000147471
RCV001610450
RCV003315936
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123582.1:p.Ala222Thr
CA173413
NM_001130110.2:c.664G>A