ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826679398
Gene: RTEL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269938.1:p.Val515Ile
CA409676749
NM_001283009.2:c.1543G>A