ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580465304
Gene: RTEL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116575.3:p.Ser949Tyr
CA9965527
NM_032957.5:c.2846C>A