ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100227
Gene: RTEL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057518.1:p.Gly739Val
CA130945
NM_016434.4:c.2216G>T