ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741998232
Gene: RTEL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2566302
ClinVar RCV Id:
RCV003293565
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116575.3:p.Arg260Lys
CA409671917
NM_032957.5:c.779G>A