ClinGen Allele Registry
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Canonical Allele Identifier:
PA916014149
Gene: RTEL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269939.1:p.Val932Met
CA9966041
NM_001283010.1:c.2794G>A