ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826681225
Gene: RTEL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000201532
RCV001731430
RCV003329257
ClinVar Variation:
217283
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269939.1:p.His517_Ile519del
CA279132
NM_001283010.1:c.1550_1558del