ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741998381
Gene: RTEL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116575.3:p.Glu689Lys
CA9965101
NM_032957.5:c.2065G>A