ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828731129
Gene: RAPGEF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
222969
ClinVar RCV Id:
RCV000208572
RCV001093195
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364867.1:p.Tyr533Cys
CA352156
NM_001377938.1:c.1598A>G