ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658818814
Gene: RTEL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
540956
ClinVar RCV Id:
RCV000651129
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269938.1:p.Thr1231Met
CA9966159
NM_001283009.2:c.3692C>T