ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645422669
Gene: EBF3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001005463.1:p.Asn66Asp
NM_001005463.3:c.196A>G