ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825822358
Gene: EGR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2413053
ClinVar RCV Id:
RCV003110068
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129650.1:p.Lys414Glu
CA377027281
NM_001136178.1:c.1240A>G