ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829834924
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_057518.1:p.Met320Thr
CA9964545
NM_016434.4:c.959T>C