ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827067510
Gene: EGR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246013
ClinVar RCV Id:
RCV000236817
RCV000858272
RCV001094002
RCV002365227
RCV003955388
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307966.1:p.Thr165Met
CA5517251
NM_001321037.2:c.494C>T