ClinGen Allele Registry
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Canonical Allele Identifier:
PA645449984
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_057518.1:p.Pro996His
CA9965693
NM_016434.4:c.2987C>A