Canonical Allele Identifier: PA2826681340
Gene: RTEL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 540960
ClinVar RCV Id: RCV000651133 RCV001092639 RCV002257910 RCV004533410
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269939.1:p.Ser592Ile
CA9965365
NM_001283010.1:c.1775G>T