ClinGen Allele Registry
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Canonical Allele Identifier:
PA658818848
Gene: RTEL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
540965
ClinVar RCV Id:
RCV000651138
RCV002257911
RCV003151123
RCV003327441
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116575.3:p.Thr917Met
CA9965497
NM_032957.5:c.2750C>T