ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828590032
Gene: EBF3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
488452
ClinVar RCV Id:
RCV000578419
RCV003237946
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362320.1:p.Arg185Lys
CA378910428
NM_001375391.1:c.554G>A