ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658659807
Gene: ENG
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001108225.1:p.Val133Ile
NM_001114753.3:c.396_397delinsAA
NM_001114753.3:c.397G>A