ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828590027
Gene: EBF3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362320.1:p.Pro177Leu
CA354945
NM_001375391.1:c.530C>T