ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825823036
Gene: EGR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1348249
ClinVar RCV Id:
RCV002044228
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129651.1:p.Ser379Asn
CA377027175
NM_001136179.1:c.1136G>A