ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826680714
Gene: RTEL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
473899
ClinVar RCV Id:
RCV000536702
RCV001007595
RCV000990339
RCV001829595
RCV002404541
RCV003480684
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269939.1:p.Arg101His
CA9964547
NM_001283010.1:c.302G>A