ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829835823
Gene: RTEL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
540960
ClinVar RCV Id:
RCV000651133
RCV001092639
RCV002257910
RCV004533410
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057518.1:p.Ser815Ile
CA9965365
NM_016434.4:c.2444G>T