ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826679400
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_001269938.1:p.Val516Ile
CA9964836
NM_001283009.2:c.1546G>A