ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658664715
Gene: EBF3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005463.1:p.His157Tyr
CA378910639
NM_001005463.3:c.469C>T