ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829835648
Gene: RTEL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057518.1:p.His731Tyr
CA9965223
NM_016434.4:c.2191C>T