ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499239389
Gene: EGR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1063256
ClinVar RCV Id:
RCV001373077
RCV003234059
RCV002357273
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129650.1:p.Pro203Leu
CA208351818
NM_001136178.1:c.608C>T