ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA277749
Gene: RTEL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000201648
ClinVar Variation:
217519
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057518.1:p.Val516Leu
CA277748
NM_016434.4:c.1546G>C