Canonical Allele Identifier: PA144789
Gene: RTEL1 HGNC NCBI
ClinVar RCV:
RCV000055640
ClinVar Variation:
65418
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_116575.3:p.Ala645Thr
CA144788
NM_032957.5:c.1933G>A