ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645450013
Gene: RTEL1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000478358
RCV000688506
RCV000984211
RCV002255417
ClinVar Variation:
422356
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116575.3:p.Arg574Cys
CA9964910
NM_032957.5:c.1720C>T