ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580190615
Gene: RTEL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269939.1:p.Pro779Leu
CA9965794
NM_001283010.1:c.2336C>T