ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499245458
Gene: RTEL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269938.1:p.Pro1234Ser
CA409686535
NM_001283009.2:c.3700C>T