ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573179571
Gene: ENG
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001108225.1:p.His494Asp
CA5252751
NM_001114753.3:c.1480C>G