ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499294302
Gene: RTEL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1019137
ClinVar RCV Id:
RCV001318531
RCV001835591
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116575.3:p.Asn263Ser
CA9964419
NM_032957.5:c.788A>G