ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828589505
Gene: EBF3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362309.1:p.Gly171Asp
CA16044228
NM_001375380.1:c.512G>A