ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827617679
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468491
ClinVar RCV Id:
RCV000526691
RCV002448727
RCV003480678
RCV004541714
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Ser761Leu
CA5297629
NM_001351528.2:c.2282C>T