ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826679432
Gene: RTEL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
214166
ClinVar RCV:
RCV000201743
RCV002517308
ClinVar Variation:
217520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269938.1:p.Ser540Ala
CA279525
NM_001283009.2:c.1618T>G