Canonical Allele Identifier: PA2826679530
Gene: RTEL1 HGNC NCBI
ClinVar RCV:
RCV000055640
ClinVar Variation:
65418
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269938.1:p.Ala621Thr
CA144788
NM_001283009.2:c.1861G>A