ClinGen Allele Registry
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Canonical Allele Identifier:
PA236349
Gene: EBP
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_006570.1:p.Arg171Cys
NM_006579.3:c.511C>T