ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827618143
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
365352
ClinVar RCV Id:
RCV000323303
RCV000380301
RCV002524587
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Pro1642Thr
CA5297106
NM_001351528.2:c.4924C>A