ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA190533
Gene: RAD50
HGNC
NCBI
Linked Data
ClinVar Variation Id:
184939
ClinVar RCV Id:
RCV000164282
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005723.2:p.Ser447Leu
CA190532
NM_005732.3:c.1340C>T