ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA121514
Gene: EBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11493
ClinVar RCV Id:
RCV000012248
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006570.1:p.Leu18Pro
CA121513
NM_006579.3:c.53T>C