ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA279133
Gene: RTEL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000201532
RCV001731430
RCV003329257
ClinVar Variation:
217283
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269938.1:p.His740_Ile742del
CA279132
NM_001283009.2:c.2219_2227del