ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3087740617
Gene: RTEL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116575.3:p.Arg574Ser
CA409677572
NM_032957.5:c.1720C>A