ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826680200
Gene: RTEL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269938.1:p.Thr1000Met
CA9965788
NM_001283009.2:c.2999C>T