ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826681429
Gene: RTEL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
436590
ClinVar RCV Id:
RCV000501006
RCV000673277
RCV000695080
RCV001834617
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269939.1:p.Pro648Leu
CA9965429
NM_001283010.1:c.1943C>T