Canonical Allele Identifier: PA100187
Gene: RTEL1 HGNC NCBI
ClinVar RCV:
RCV000055640
ClinVar Variation:
65418
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_057518.1:p.Ala621Thr
CA144788
NM_016434.4:c.1861G>A