ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830107687
Gene: RTEL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
436594
ClinVar RCV Id:
RCV000503523
RCV000765496
RCV001272192
RCV002446980
RCV004535619
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116575.3:p.Pro1020His
CA9965693
NM_032957.5:c.3059C>A