ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913194863
Gene: EBP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006570.1:p.Arg171His
CA10403050
NM_006579.3:c.512G>A