ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915978050
Gene: EGR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16753
ClinVar RCV Id:
RCV000018238
RCV001233037
RCV003447084
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129650.1:p.Glu412Lys
CA126847
NM_001136178.1:c.1234G>A