ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825821380
Gene: EGR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1346724
ClinVar RCV Id:
RCV002030160
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129649.1:p.Ala139Ser
CA377030723
NM_001136177.1:c.415G>T