Canonical Allele Identifier: PA2826681068
Gene: RTEL1 HGNC NCBI
ClinVar RCV:
RCV000055640
ClinVar Variation:
65418
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269939.1:p.Ala398Thr
CA144788
NM_001283010.1:c.1192G>A