ClinGen Allele Registry
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Canonical Allele Identifier:
PA916014128
Gene: RTEL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000536138
RCV001273633
RCV001637079
ClinVar Variation:
473918
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269939.1:p.Ala836Thr
CA9965892
NM_001283010.1:c.2506G>A