ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA163954
Gene: RAD50
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005723.2:p.Leu1264Phe
CA163953
NM_005732.3:c.3790C>T