ClinGen Allele Registry
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Canonical Allele Identifier:
PA915977979
Gene: EGR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41008
ClinVar RCV Id:
RCV000033901
RCV000701335
RCV000789745
RCV002472942
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129650.1:p.Arg381His
CA343874
NM_001136178.1:c.1142G>A