ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA210096
Gene: RTEL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217285
ClinVar RCV Id:
RCV000201575
RCV000666023
RCV001309992
RCV001833164
RCV003329259
RCV004530203
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116575.3:p.Arg1010Gln
CA210095
NM_032957.5:c.3029G>A