Canonical Allele Identifier: PA2826679178
Gene: RTEL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 473899
ClinVar RCV Id: RCV000536702 RCV001007595 RCV000990339 RCV001829595 RCV002404541 RCV003480684
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269938.1:p.Arg324His
CA9964547
NM_001283009.2:c.971G>A