ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA351257
Gene: RTEL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003765464
ClinVar Variation:
242480
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116575.3:p.Ile449Thr
CA351256
NM_032957.5:c.1346T>C