ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA117822
Gene: RAD50
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005723.2:p.Arg1093Ter
NM_005732.3:c.3277C>T