ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA144780
Gene: RTEL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65413
ClinVar RCV Id:
RCV000055635
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116575.3:p.Ile723Met
CA144779
NM_032957.5:c.2169C>G