ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100200
Gene: RTEL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
42021
ClinVar RCV Id:
RCV000034863
RCV000588014
RCV001239040
RCV003129761
RCV004534729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057518.1:p.Arg957Trp
CA130954
NM_016434.4:c.2869C>T