ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573293912
Gene: RTEL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001942844
ClinVar Variation:
1365906
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116575.3:p.Val540Ile
CA9964836
NM_032957.5:c.1618G>A