ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA173395
Gene: SETBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
159873
ClinVar RCV Id:
RCV000147460
RCV000713189
RCV003315933
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056374.2:p.Pro1130Thr
CA173394
NM_015559.3:c.3388C>A