ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828589344
Gene: EBF3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
375375
ClinVar RCV Id:
RCV000416467
RCV001526827
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362308.1:p.Gly171Asp
CA16044228
NM_001375379.1:c.512G>A