ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826681340
Gene: RTEL1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000651133
RCV001092639
RCV002257910
RCV004533410
ClinVar Variation:
540960
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269939.1:p.Ser592Ile
CA9965365
NM_001283010.1:c.1775G>T