ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658688390
Gene: SETBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
493235
ClinVar RCV Id:
RCV000585602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056374.2:p.Met1319Thr
CA8946030
NM_015559.3:c.3956T>C