ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825822862
Gene: EGR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1383838
ClinVar RCV Id:
RCV001895543
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129651.1:p.Ile270Val
CA377028275
NM_001136179.1:c.808A>G