ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827617803
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452684
ClinVar RCV Id:
RCV000521273
RCV002438262
RCV001306845
RCV004541636
RCV001662531
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Arg1010His
CA5297494
NM_001351528.2:c.3029G>A