ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031111
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448346
ClinVar RCV Id:
RCV000518280
RCV000764810
RCV000624322
RCV001731743
RCV001702669
RCV004541621
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Thr2507Ala
CA5296390
NM_001351528.2:c.7519A>G