ClinGen Allele Registry
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Canonical Allele Identifier:
PA658818812
Gene: RTEL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
540945
ClinVar RCV Id:
RCV000651112
RCV001276035
RCV001564499
RCV003151119
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116575.3:p.Met344Thr
CA9964545
NM_032957.5:c.1031T>C