ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3073444228
Gene: EN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001418.2:p.Leu121Val
CA370130814
NM_001427.4:c.361C>G