ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580190665
Gene: RTEL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269939.1:p.Ser850Ala
CA409684981
NM_001283010.1:c.2548T>G