ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830106672
Gene: RTEL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116575.3:p.Ala314Val
CA9964466
NM_032957.5:c.941C>T