ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA279526
Gene: RTEL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217520
ClinVar RCV Id:
RCV000201743
RCV002517308
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057518.1:p.Ser540Ala
CA279525
NM_016434.4:c.1618T>G