Canonical Allele Identifier: PA100218
Gene: RTEL1 HGNC NCBI
ClinVar RCV:
RCV000055638
ClinVar Variation:
65416
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_057518.1:p.Glu591Asp
CA144784
NM_016434.4:c.1773G>T
CA409678121
NM_016434.4:c.1773G>C