ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826680985
Gene: RTEL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269939.1:p.Tyr331Cys
CA317511153
NM_001283010.1:c.992A>G