ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829835178
Gene: RTEL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000675058
RCV002509276
RCV003329252
RCV003765064
ClinVar Variation:
190473
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057518.1:p.Pro484Leu
CA199727
NM_016434.4:c.1451C>T