Canonical Allele Identifier: PA2826679445
Gene: RTEL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 422356
ClinVar RCV Id: RCV000478358 RCV000688506 RCV000984211 RCV002255417
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269938.1:p.Arg550Cys
CA9964910
NM_001283009.2:c.1648C>T